Created by CK-12 Foundation/Adapted by Christine Miller

As you learned in the beginning of this chapter, botulinum toxin — one form of which is sold under the brand name Botox — does much more than smooth out wrinkles. It can be used to treat a number of disorders involving excessive muscle contraction, including cervical dystonia. You also learned that cervical dystonia, which Edward suffers from, causes abnormal, involuntary muscle contractions of the neck. This results in jerky movements of the head and neck, and/or a sustained abnormal tilt to the head. It is often painful and can significantly interfere with a person’s life.

How could a toxin actually help treat a muscular disorder? The botulinum toxin is produced by the soil bacterium, Clostridium botulinum, and it is the cause of the potentially deadly disease called botulism. Botulism is often a foodborne illness, commonly caused by foods that are improperly canned. Other forms of botulism are caused by wound infections, or occur when infants consume spores of the bacteria from soil or honey.

Botulism can be life-threatening, because it paralyzes muscles throughout the body, including those involved in breathing. When a very small amount of botulinum toxin is injected carefully into specific muscles by a trained medical professional, however, it can be useful in inhibiting unwanted muscle contractions.

For cosmetic purposes, botulinum toxin injected into the facial muscles relaxes them to reduce the appearance of wrinkles. When used to treat cervical dystonia, it is injected into the muscles of the neck to inhibit excessive muscle contractions. For many patients, this helps relieve the abnormal positioning, movements, and pain associated with the disorder. The effect is temporary, so the injections must be repeated every three to four months to keep the symptoms under control.

How does botulinum toxin inhibit muscle contraction? First, recall how skeletal muscle contraction works. A motor neuron instructs skeletal muscle fibres to contract at a synapse between them called the neuromuscular junction. A nerve impulse called an action potential travels down to the axon terminal of the motor neuron, where it causes the release of the neurotransmitter acetylcholine (ACh) from synaptic vesicles. The ACh travels across the synaptic cleft and binds to ACh receptors on the muscle fibre, signaling the muscle fibre to contract. According to the sliding filament theory, the contraction of the muscle fibre occurs due to the sliding of myosin and actin filaments across each other. This causes the Z discs of the sacromeres to move closer together, shortening the sacromeres and causing the muscle fibre to contract.

If you wanted to inhibit muscle contraction, at what points could you theoretically interfere with this process? Inhibiting the action potential in the motor neuron, the release of ACh, the activity of ACh receptors, or the sliding filament process in the muscle fibre would all theoretically impair this process and inhibit muscle contraction. For example, in the disease myasthenia gravis, the function of the ACh receptors is impaired, causing a lack of sufficient muscle contraction. As you have learned, this results in muscle weakness that can eventually become life-threatening. Botulinum toxin works by inhibiting the release of ACh from the motor neurons, thereby removing the signal instructing the muscles to contract.

Fortunately, Edward’s excessive muscle contractions and associated pain improved significantly thanks to botulinum toxin injections. Although cervical dystonia cannot currently be cured, botulinum toxin injections have improved the quality of life for many patients with this and other disorders involving excessive involuntary muscle contractions.

As you have learned in this chapter, our muscular system allows us to do things like make voluntary movements, digest our food, and pump blood through our bodies. Whether they are in your arm, heart, stomach, or blood vessels, muscle tissue works by contracting. But as you have seen here, too much contraction can be a very bad thing. Fortunately, scientists and physicians have found a way to put a potentially deadly toxin — and wrinkle-reducing treatment — to excellent use as a medical treatment for some muscular system disorders.

Attributions

Figure 12.7.1

Botox, he whispered by Michael Reuter on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.

Figure 12.7.2

botulism by jason wilson on Flickr is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/) license.

Reference

Pearson Scott Foresman. (2020, April 14). File:Biceps (PSF).jpg [digital image]. Wikimedia Commons. https://commons.wikimedia.org/w/index.php?title=File:Biceps_(PSF).jpg&oldid=411251538. [Public Domain (https://en.wikipedia.org/wiki/Public_domain)]

 

Refers to the body system consisting of the heart, blood vessels and the blood. Blood contains oxygen and other nutrients which your body needs to survive. The body takes these essential nutrients from the blood.

Structures containing neuronal cell bodies in the peripheral nervous system.

Created by CK-12 Foundation/Adapted by Christine Miller

As Sophia discovered in the beginning of the chapter, wearing high heels can result in a condition called metatarsalgia. Metatarsalgia is named for the metatarsal bones, which are the five bones that run through the ball of the foot  just behind the toes (highlighted in Figures 11.8.2 and 11.8.3). Wearing high heels causes excessive pressure on the ball of the foot, as described in the beginning of this chapter. Additionally, the toes are forced to pull upward in high heels, which moves the fleshy padding away from the ball of the foot and adds to the overall pressure placed on this region. Over time, this can cause inflammation and direct stress on the bones, resulting in the pain in the ball of the foot known as metatarsalgia. The pain occurs especially in weight-bearing positions, such as standing, walking, or running — which is what Sophia was experiencing. There may also be pain, numbness, or tingling in the toes associated with metatarsalgia.

Wearing high heels can also cause stress fractures in the feet, which are tiny breaks in bone that occur due to repeated mechanical stress. This is caused by the excessive pressure that high heels put on some of the bones of the feet. These fractures are somewhat similar to what occurs in osteoporosis when the bone mass decreases to the point where bones can fracture easily as a person goes about their daily activities. In both cases, a major noticeable injury is not necessary to create the tiny fractures. As you have learned, tiny fractures that accrue over time are the cause of dowager’s hump (or kyphosis), which is often seen in women with osteoporosis.

Don’t think you are immune to stress fractures just because you don’t wear high heels! This injury also commonly occurs in people who participate in sports involving repetitive striking of the foot on the ground, such as running, tennis, basketball, or gymnastics. They may be avoided by taking preventative measures. You should ramp up any increase in activity slowly, cross-train by engaging in a variety of different sports or activities, rest if you experience pain, and wear well-cushioned and supportive running shoes.  It is important to know that your cardiovascular and muscular systems adapt to an increase in physical activity much more quickly than the skeletal system.

Sophia learned through her online research that wearing high heels can also lead to foot deformities, such as bunions and hammertoes. As you learned in an earlier chapter, a bunion is a protrusion on the side of the foot, most often at the base of the big toe. It can be caused by wearing shoes with a narrow, pointed toe box — a common shape for high heels (see Figure 11.8.4). The pressure of the shoes on the side of the foot causes an enlargement of bone or inflammation of other tissues in the region, which pushes the big toe toward the other toes.

Hammertoes are an abnormal bend in the middle joint of the second, third, or fourth toe (with the big toe being the first toe), causing the toe to be shaped similarly to a hammer. The narrow, pointed toe box of many high heels, combined with the way the toes are squished into the front of the shoe as a result of the height of the heel, can cause the toes to become deformed this way. Treatments for bunions and hammertoe include wearing shoes with a roomy toe box, padding or taping the toes, and toe exercises and stretches. If the bunion or hammertoe does not respond to these treatments, surgery may be necessary to correct the deformity.

Because the bones of the skeleton are connected and work together with other systems to support the body, wearing high heels can also cause physical problems in areas other than the feet. Wearing high heels shifts a person’s posture and alignment, and can put strain on tendons, muscles, and other joints in the body. Research published in 2014 from a team at Stanford University suggests that wearing high heels, particularly if the person is overweight or the heels are very high, may increase the risk of osteoarthritis (OA) in the knee, due to added stress on the knee joint as the person walks. As you have learned, OA results from the breakdown of cartilage and bone at the joint. Because it can only be treated to minimize symptoms — and not for a cure — OA could be an unfortunate long-term consequence of wearing high heels.

Sophia has decided that wearing high heels regularly is not worth the pain and potential long-term damage to her body. After consulting with her doctor, who confirmed she had metatarsalgia, she was able to successfully treat it with ice, rest, and wearing comfortable, supportive shoes instead of heels.

High heels are not the only kind of shoes that can cause problems. Flip-flops, worn-out sneakers, and shoes that are too tight can all cause foot issues. To prevent future problems from her shoe choices, Sophia is following guidelines recommended by medical experts. The guidelines include:

• Wearing shoes that fit well, have plenty of room in the toes, are supportive, and are comfortable right away. There should be no “break-in” period needed for shoes.
• Avoiding high heels, especially those with heels over two inches high, or those that have narrow, pointed toe boxes or very thin heels. The heels pictured in Figure 11.8.4 are an example of a type of shoe that should be avoided.
• If high heels must be worn, it should only be for a limited period of time.

As you have learned in this chapter, your skeletal system carries out a variety of important functions in your body, including physical support. But even though it is strong, your skeletal system can become damaged and deformed — even through such a seemingly innocuous act as wearing a certain type of shoe. Taking good care of your skeletal system is necessary to help it continue to take good care of the rest of you.

Figure 11.8.3

Gray290_-_Mratatarsus (1) by Henry Vandyke Carter (1831-1897) (Revised by Warren H. Lewis, coloured by Was a bee) on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain. (Bartleby.com: Gray’s Anatomy, Plate 290)

Figure 11.8.4

Heels by gavin-allanwood-ndpX28miBtE-unsplash by Photo by Gavin Allanwood on Unsplash is used under the Unsplash License (https://unsplash.com/license).

References

Mayo Clinic Staff. (n.d.). Hammertoe and mallet toe [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/hammertoe-and-mallet-toe/symptoms-causes/syc-20350839

VanDyke Carter, H. (1858). Illustration plate 290. In H. Gray,  Anatomy of the Human Body. Lea & Febiger. Bartleby.com, 2000. www.bartleby.com/107/.

Created by CK-12 Foundation/Adapted by Christine Miller

Is this woman double jointed? No, there is actually no such thing — at least as far as humans are concerned. However, some people, like the woman pictured in Figure 11.6.1, are much more flexible than others, generally because they have looser ligaments. Physicians call this condition joint hypermobility. Regardless of what it’s called, the feats of people with highly mobile joints can be quite impressive.

Joints are locations at which bones of the skeleton connect with one another. A joint is also called an articulation. The majority of joints are structured in such a way that they allow movement. However, not all joints allow movement. Of joints that do allow movement, the extent and direction of the movements they allow also vary.

Joints can be classified structurally or functionally. The structural classification of joints depends on the manner in which the bones connect to each other. The functional classification of joints depends on the nature of the movement the joints allow. There is significant overlap between the two types of classifications, because function depends largely on structure.

Structural Classification of Joints

The structural classification of joints is based on the type of tissue that binds the bones to each other at the joint. There are three types of joints in the structural classification: fibrous, cartilaginous, and synovial joints.

1. Fibrous joints are joints in which bones are joined by dense connective tissue that is rich in collagen fibres. These joints are also called sutures. The joints between bones of the cranium are fibrous joints.
2. Cartilaginous joints are joints in which bones are joined by cartilage. The joints between most of the vertebrae in the spine are cartilaginous joints.
3. Synovial joints are characterized by a fluid-filled space (called a synovial cavity) between the bones of the joints. You can see a drawing of a typical synovial joint in Figure 11.6.2. The cavity is enclosed by a membrane and filled with a fluid (called synovial fluid) that provides extra cushioning to the ends of the bones. Cartilage covers the articulating surfaces of the two bones, but the bones are actually held together by ligaments. The knee is a synovial joint.

Functional Classification of Joints

The functional classification of joints is based on the type and degree of movement that they allow. There are three types of joints in the functional classification: immovable, partly movable, and movable joints.

1. Immovable joints allow little or no movement at the joint. Most immovable joints are fibrous joints. Besides the bones of the cranium, immovable joints include joints between the tibia and fibula in the lower leg, and between the radius and ulna in the lower arm.
2. Partly movable joints permit slight movement. Most partly movable joints are cartilaginous joints. Besides the joints between vertebrae, they include the joints between the ribs and sternum (breast bone).
3. Movable joints allow bones to move freely. All movable joints are synovial joints. Besides the knee, they include the shoulder, hip, and elbow. Movable joints are the most common type of joints in the body.

Types of Movable Joints

Movable joints can be classified further according to the type of movement they allow. There are six classes of movable joints: pivot, hinge, saddle, plane, condyloid, and ball-and-socket joints. An example of each class — as well as the type of movement it allows — is shown in Figure 11.6.3.

• A ball-and-socket joint allows the greatest range of movement of any movable joint. It allows forward and backward motion, as well as upward and downward movement. It also allows rotation in a circle. The hip and shoulder are the only two ball-and-socket joints in the human body.
• A pivot joint allows one bone to rotate around another. An example of a pivot joint is the joint between the first two vertebrae in the spine. This joint allows the head to rotate from left to right and back again.
• A hinge joint allows back and forth movement like the hinge of a door. An example of a hinge joint is the elbow. This joint allows the arm to bend back and forth.
• A saddle joint allows two different types of movement. An example of a saddle joint is the joint between the first metacarpal bone in the hand and one of the carpal bones in the wrist. This joint allows the thumb to move toward and away from the index finger, and also to cross over the palm toward the little finger.
• A plane joint (also called a gliding joint) allows two bones to glide over one another. The joints between the tarsals in the ankles and between the carpals in the wrists are mainly gliding joints. In the wrist, this type of joint allows the hand to bend upward at the wrist, and also to wave from side to side while the lower arm is held steady.
• A condyloid joint is one in which an oval-shaped head on one bone moves in an elliptical cavity in another bone, allowing movement in all directions, except rotation around an axis. The joint between the radius in the lower arm and carpal bones of the wrist is a condyloid joint, as is the joint at the base of the index finger.

Of all the parts of the skeletal system, the joints are generally the most fragile and subject to damage. If the cartilage that cushions bones at joints wears away, it does not grow back. Eventually, all of the cartilage may wear away. This causes osteoarthritis, which can be both painful and debilitating. In serious cases of osteoarthritis, people may lose the ability to climb stairs, walk long distances, perform routine daily activities, or participate in activities they love, such as gardening or playing sports. If you protect your joints, you can reduce your chances of joint damage, pain, and disability. If you already have joint damage, it is equally important to protect your joints and limit further damage. Follow these five tips:

1. Maintain a normal, healthy weight. The more you weigh, the more force you exert on your joints. When you walk, each knee has to bear a force equal to as much as six times your body weight. If a person weighs 200 pounds, each knee bears more than half a ton of weight with every step. Seven in ten knee replacement surgeries for osteoarthritis can be attributed to obesity.
2. Avoid too much high-impact exercise. Examples of high-impact activities include volleyball, basketball, and tennis. These activities generally involve running or jumping on hard surfaces, which puts tremendous stress on weight-bearing joints, especially the knees. Replace some or all of your high-impact activities with low-impact activities, such as biking, swimming, yoga, or lifting light weights.
3. Reduce your risk of injury. Don’t be a weekend warrior, sitting at a desk all week and then crowding all your physical activity into two days. Get involved in a regular, daily exercise routine that keeps your body fit and your muscles toned. Building up muscles will make your joints more stable, allowing stress to spread across them. Be sure to do some stretching every day to keep the muscles around joints flexible and less prone to injury.
4. Distribute work over your body, and use your largest, strongest joints. Use your shoulder, elbow, and wrist to lift heavy objects — not just your fingers. Hold small items in the palm of your hand, rather than by the fingers. Carry heavy items in a backpack, rather than in your hands. Hold weighty objects close to your body, instead of at arms’ length. Lift with your hips and knees, not your back.
5. Respect pain. If it hurts, stop doing it. Take a break from the activity — at least until the pain stops. Try to use joints only to the point of mild fatigue, not pain.

Attributions

Figure 11.6.1

Tags: Sports Gymnastics Fitness Woman Preparation by nastya_gepp on Pixabay is used under the Pixabay License (https://pixabay.com/de/service/license/).

Figure 11.6.2

Synovial_Joints by OpenStax College on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 11.6.3

Types_of_Synovial_Joints by OpenStax College on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

References

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure 9.8 Synovial joints [digital image].  In Anatomy and Physiology (Section 9.4). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/9-4-synovial-joints

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure 9.10 Types of synovial joints [digital image].  In Anatomy and Physiology (Section 9.4). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/9-4-synovial-joints

Mayo Clinic Staff. (n.d.). Osteoarthritis [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/osteoarthritis/symptoms-causes/syc-20351925

TED-Ed. (2015, May 5). Why do your knuckles pop? - Eleanor Nelsen. YouTube. https://www.youtube.com/watch?v=IjiKUmfaZr4

TED-Ed. (2019, November 7). Why haven’t we cured arthritis? - Kaitlyn Sadtler and Heather J. Faust. YouTube. https://www.youtube.com/watch?v=FWsBm3hr3B0

 

Involuntary, striated muscle found only in the walls of the heart; also called myocardium.

Created by CK-12 Foundation/Adapted by Christine Miller

Does the word muscle make you think of the well-developed muscles of a weightlifter, like the woman in Figure 12.2.1? Her name is Natalia Zabolotnaya, and she’s a Russian Olympian. The muscles that are used to lift weights are easy to feel and see, but they aren’t the only muscles in the human body. Many muscles are deep within the body, where they form the walls of internal organs and other structures. You can flex your biceps at will, but you can’t control internal muscles like these. It’s a good thing that these internal muscles work without any conscious effort on your part, because movement of these muscles is essential for survival. Muscles are the organs of the muscular system.

The muscular system consists of all the muscles of the body. The largest percentage of muscles in the muscular system consists of skeletal muscles, which are attached to bones and enable voluntary body movements (shown in Figure 12.2.2). There are almost 650 skeletal muscles in the human body, many of them shown in Figure 12.2.2. Besides skeletal muscles, the muscular system also includes cardiac muscle, which makes up the walls of the heart, and smooth muscles, which control movement in other internal organs and structures.

Muscles are organs composed mainly of muscle cells, which are also called muscle fibres (mainly in skeletal and cardiac muscle) or myocytes (mainly in smooth muscle). Muscle cells are long, thin cells that are specialized for the function of contracting. They contain protein filaments that slide over one another using energy in ATP. The sliding filaments increase the tension in — or shorten the length of — muscle cells, causing a contraction. Muscle contractions are responsible for virtually all the movements of the body, both inside and out.

Skeletal muscles are attached to bones of the skeleton. When these muscles contract, they move the body. They allow us to use our limbs in a variety of ways, from walking to turning cartwheels. Skeletal muscles also maintain posture and help us to keep balance.

Smooth muscles in the walls of blood vessels contract to cause vasoconstriction, which may help conserve body heat. Relaxation of these muscles causes vasodilation, which may help the body lose heat. In the organs of the digestive system, smooth muscles squeeze food through the gastrointestinal tract by contracting in sequence to form a wave of muscle contractions called peristalsis. Think of squirting toothpaste through a tube by applying pressure in sequence from the bottom of the tube to the top, and you have a good idea of how food is moved by muscles through the digestive system. Peristalsis of smooth muscles also moves urine through the urinary tract.

Cardiac muscle tissue is found only in the walls of the heart. When cardiac muscle contracts, it makes the heart beat. The pumping action of the beating heart keeps blood flowing through the cardiovascular system.

Muscles can grow larger, or hypertrophy. This generally occurs through increased use, although hormonal or other influences can also play a role. The increase in testosterone that occurs in males during puberty, for example, causes a significant increase in muscle size. Physical exercise that involves weight bearing or resistance training can increase the size of skeletal muscles in virtually everyone. Exercises (such as running) that increase the heart rate may also increase the size and strength of cardiac muscle. The size of muscle, in turn, is the main determinant of muscle strength, which may be measured by the amount of force a muscle can exert.

Muscles can also grow smaller, or atrophy, which can occur through lack of physical activity or from starvation. People who are immobilized for any length of time — for example, because of a broken bone or surgery — lose muscle mass relatively quickly. People in concentration or famine camps may be so malnourished that they lose much of their muscle mass, becoming almost literally just “skin and bones.” Astronauts on the International Space Station may also lose significant muscle mass because of weightlessness in space (see Figure 12.2.3).

Many diseases, including cancer and AIDS, are often associated with muscle atrophy. Atrophy of muscles also happens with age. As people grow older, there is a gradual decrease in the ability to maintain skeletal muscle mass, known as sarcopenia. The exact cause of sarcopenia is not known, but one possible cause is a decrease in sensitivity to growth factors that are needed to maintain muscle mass. Because muscle size determines strength, muscle atrophy causes a corresponding decline in muscle strength.

In both hypertrophy and atrophy, the number of muscle fibres does not change. What changes is the size of the muscle fibres. When muscles hypertrophy, the individual fibres become wider. When muscles atrophy, the fibres become narrower.

Muscles cannot contract on their own. Skeletal muscles need stimulation from motor neurons in order to contract. The point where a motor neuron attaches to a muscle is called a neuromuscular junction. Let’s say you decide to raise your hand in class. Your brain sends electrical messages through motor neurons to your arm and shoulder. The motor neurons, in turn, stimulate muscle fibres in your arm and shoulder to contract, causing your arm to rise.

Involuntary contractions of smooth and cardiac muscles are also controlled by electrical impulses, but in the case of these muscles, the impulses come from the autonomic nervous system (smooth muscle) or specialized cells in the heart (cardiac muscle). Hormones and some other factors also influence involuntary contractions of cardiac and smooth muscles. For example, the fight-or-flight hormone adrenaline increases the rate at which cardiac muscle contracts, thereby speeding up the heartbeat.

Muscles cannot move the body on their own. They need the skeletal system to act upon. The two systems together are often referred to as the musculoskeletal system. Skeletal muscles are attached to the skeleton by tough connective tissues called tendons. Many skeletal muscles are attached to the ends of bones that meet at a joint. The muscles span the joint and connect the bones. When the muscles contract, they pull on the bones, causing them to move. The skeletal system provides a system of levers that allow body movement. The muscular system provides the force that moves the levers.

 

We all get tired sometimes, especially if we have been doing a lot of physical activity, like the athletes pictured in Figure 4.1.1. But for Jasmin (Figure 4.1.2), a 34-year-old former high school track star who is now a recreational runner, her tiredness was going far beyond what she thought should be normal for someone in generally good physical shape.

She was experiencing extreme fatigue after her runs, as well as muscle cramping, spasms, and an unusual sense of heaviness in her legs. At first, she just chalked it up to getting older, but her exhaustion and pain worsened to the point where the former athlete could no longer run for more than a few minutes at a time. She began to experience other unusual symptoms, such as blurry vision and vomiting for no apparent reason.

Concerned, Jasmin went to her doctor, who ran many tests and consulted with several specialists. After several months, she was finally diagnosed with a mitochondrial disease. Jasmin is surprised. She has an 8-year-old niece with a mitochondrial disease, but her niece’s symptoms started when she was very young, and they included seizures and learning disabilities. How can Jasmin have the same disease, but different symptoms? Why didn't she have problems until adulthood, while her niece experienced symptoms at an early age? And what are mitochondria, anyway?

 

Attributes

Figure 4.1.1

Difficult competition by Massimo Sartirana on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 4.1.2

Exhausted by Kevin Grieve on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Created by: CK-12/Adapted by Christine Miller

We all get tired sometimes, especially if we have been doing a lot of physical activity, like the athletes pictured in Figure 4.1.1. But for Jasmin (Figure 4.1.2), a 34-year-old former high school track star who is now a recreational runner, her tiredness was going far beyond what she thought should be normal for someone in generally good physical shape.

She was experiencing extreme fatigue after her runs, as well as muscle cramping, spasms, and an unusual sense of heaviness in her legs. At first, she just chalked it up to getting older, but her exhaustion and pain worsened to the point where the former athlete could no longer run for more than a few minutes at a time. She began to experience other unusual symptoms, such as blurry vision and vomiting for no apparent reason.

Concerned, Jasmin went to her doctor, who ran many tests and consulted with several specialists. After several months, she was finally diagnosed with a mitochondrial disease. Jasmin is surprised. She has an 8-year-old niece with a mitochondrial disease, but her niece’s symptoms started when she was very young, and they included seizures and learning disabilities. How can Jasmin have the same disease, but different symptoms? Why didn't she have problems until adulthood, while her niece experienced symptoms at an early age? And what are mitochondria, anyway?

 

Attributes

Figure 4.1.1

Difficult competition by Massimo Sartirana on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 4.1.2

Exhausted by Kevin Grieve on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Image shows an electron microscope image of a cell. There is a defined cell boundary and several structures inside of different sizes and textures.

 

Figure 4.2.1 Human cells viewed with a very powerful tool called a scanning electron microscope.

What are these incredible objects? Would it surprise you to learn that they are all human cells? Cells are actually too small to see with the unaided eye. It is visible here in such detail because it is being viewed with a very powerful tool called a scanning electron microscope. Cells may be small in size, but they are extremely important to life. Like all other living things, you are made of cells. Cells are the basis of life, and without cells, life as we know it would not exist. You will learn more about these amazing building blocks of life in this section.

If you look at living matter with a microscope — even a simple light microscope — you will see that it consists of cells. Cells are the basic units of the structure and function of living things. They are the smallest units that can carry out the processes of life. All organisms are made up of one or more cells, and all cells have many of the same structures and carry out the same basic life processes. Knowing the structure of cells and the processes they carry out is necessary to an understanding of life itself.

The first time the word cell was used to refer to these tiny units of life was in 1665 by a British scientist named Robert Hooke. Hooke was one of the earliest scientists to study living things under a microscope. The microscopes of his day were not very strong, but Hooke was still able to make an important discovery. When he looked at a thin slice of cork under his microscope, he was surprised to see what looked like a honeycomb. Hooke made the drawing in the figure to the right to show what he saw. As you can see, the cork was made up of many tiny units. Hooke called these units cells because they resembled cells in a monastery.

By the early 1800s, scientists had observed cells of many different organisms. These observations led two German scientists named Theodor Schwann and Matthias Jakob Schleiden to propose cells as the basic building blocks of all living things. Around 1850, a German doctor named Rudolf Virchow was studying cells under a microscope, when he happened to see them dividing and forming new cells. He realized that living cells produce new cells through division. Based on this realization, Virchow proposed that living cells arise only from other living cells.

The ideas of all three scientists — Schwann, Schleiden, and Virchow — led to cell theory, which is one of the fundamental theories unifying all of biology.

Cell theory states that:

• All organisms are made of one or more cells.
• All the life functions of organisms occur within cells.
• All cells come from existing cells.

Starting with Robert Hooke in the 1600s, the microscope opened up an amazing new world — a world of life at the level of the cell. As microscopes continued to improve, more discoveries were made about the cells of living things, but by the late 1800s, light microscopes had reached their limit. Objects much smaller than cells (including the structures inside cells) were too small to be seen with even the strongest light microscope.

Then, in the 1950s, a new type of microscope was invented. Called the electron microscope, it used a beam of electrons instead of light to observe extremely small objects. With an electron microscope, scientists could finally see the tiny structures inside cells. They could even see individual molecules and atoms. The electron microscope had a huge impact on biology. It allowed scientists to study organisms at the level of their molecules, and it led to the emergence of the molecular biology field. With the electron microscope, many more cell discoveries were made.

Although cells are diverse, all cells have certain parts in common. These parts include a plasma membrane, cytoplasm, ribosomes, and DNA.

1. The plasma membrane (a type of cell membrane) is a thin coat of lipids that surrounds a cell. It forms the physical boundary between the cell and its environment. You can think of it as the “skin” of the cell.
2. Cytoplasm refers to all of the cellular material inside of the plasma membrane. Cytoplasm is made up of a watery substance called cytosol, and it contains other cell structures, such as ribosomes.
3. Ribosomes are the structures in the cytoplasm in which proteins are made.
4. DNA is a nucleic acid found in cells. It contains the genetic instructions that cells need to make proteins.

These four parts are common to all cells, from organisms as different as bacteria and human beings. How did all known organisms come to have such similar cells? The similarities show that all life on Earth has a common evolutionary history.

Created by: CK-12/Adapted by Christine Miller

Is It Magic?

The harmless-looking bottle in Figure 3.8.1 contains a greenish-yellow, poisonous gas. The gas is chlorine, which is also used as bleach and to keep the water in pools and hot tubs free of germs. Chlorine can kill just about anything. Would you breathe in chlorine gas or drink liquid chlorine? Of course not, but you often eat a compound containing chlorine. You probably eat this chlorine compound just about every day. Can you guess what it is? It's table salt.

Table salt is actually sodium chloride (NaCl), which forms when chlorine and sodium (Na) combine in certain proportions. How does the toxic green chemical chlorine change into the harmless white compound we know as table salt? It isn't magic — it's chemistry, and it happens in a chemical reaction.

A chemical reaction is a process that changes some chemical substances into others. A substance that starts a chemical reaction is called a reactant, and a substance that forms as a result of a chemical reaction is called a product. During the reaction, the reactants are used up to create the products.

The burning of methane gas, as shown in the picture below, is a chemical reaction. In this reaction, the reactants are methane (CH₄) and oxygen (O₂), and the products are carbon dioxide (CO₂) and water (H₂O). As this example shows, a chemical reaction involves the breaking and forming of chemical bonds, which are forces that hold together the atoms of a molecule. When methane burns, for example, bonds break within the methane and oxygen molecules, and new bonds form in the molecules of carbon dioxide and water.

 

Chemical reactions can be represented by chemical equations. A chemical equation is a symbolic way of showing what happens during a chemical reaction. The burning of methane, for example, can be represented by the chemical equation:

CH₄ + 2O₂ → CO₂ + 2H₂O

The arrow in a chemical equation separates the reactants from the products, and shows the direction in which the reaction proceeds. If the reaction could occur in the opposite direction as well, two arrows pointing in opposite directions would be used. The number 2 in front of O₂ and H₂O, called the coefficient, shows that two oxygen molecules and two water molecules are involved in the reaction. If just one molecule is involved, no number is placed in front of the chemical symbol. Note the subscript of 2 for the oxygen (O) and hydrogen (H) atoms in the oxygen and water molecules, respectively. That tells you that each oxygen molecule is made up of two oxygen atoms. If there is no subscript, then there is a single atom. Thus, one water molecule is made up of two hydrogen atoms and one oxygen atom. In order for this chemical reaction to take place, one methane molecule reacts with two oxygen molecules to form one carbon dioxide molecule and two water molecules.

In a chemical reaction, the quantity of each element does not change. There is the same amount of each element in the products as there was in the reactants. Mass is always conserved. According to the law of conservation of mass — which was first demonstrated convincingly by French chemist Antoine Lavoisier in 1785 — mass is neither created nor destroyed during a chemical reaction. Therefore, during a chemical reaction, the total mass of products is equal to the total mass of reactants. The conservation of mass is reflected in a reaction's chemical equation. The same number of atoms of each element appears on each side of the arrow. In the chemical equation above, there are four hydrogen atoms on each side of the arrow. Can you find all four of them on each side of the equation?

Many processes that happen all around us on a daily basis involve chemical reactions. Not every change, however, is a chemical change. Some changes are simply physical and do not involve chemical reactions. Physical changes include change in size of pieces and change in state.  If you break an eggshell and pour out the egg into a pan, its chemical makeup and properties do not change. This is just a physical change. No chemical reactions have occurred, and no chemical bonds have broken or formed. Other examples of physical changes are cutting paper into smaller pieces and letting an ice cube melt. What if you put the egg in the pan over a hot flame? The egg turns to a rubbery solid and changes colour. The properties of the egg have changed because its chemical makeup has changed. Cooking the egg is a chemical change that involves chemical reactions.

Other common examples of chemical changes include a cake baking, metal rusting, and a candle burning. More practice is below.

A cardiac muscle cell. The cell is striated, containing thick and thin proteins arranged linearly. These filaments are composed, like other striated muscle cells, largely of actin and myosin. The cell has an abundant supply of mitochondria that supply the energy needed by the cell for regular muscular contraction.

 

Look at the big windows in this house (Figure 4.7.1). Imagine all the light they must let in on a sunny day. Now imagine living in a house that has walls without any windows or doors. Nothing could enter or leave. Or imagine living in a house with holes in the walls instead of windows and doors. Things could enter or leave, but you couldn’t control what came in or went out. Only when a house has walls with windows and doors that can be opened or closed, can you control what enters or leaves. Windows and doors allow you to let in light and the family dog and keep out rain and bugs, for example.

If a cell were a house, the plasma membrane would be walls with windows and doors. Moving things in and out of the cell is an important function of the plasma membrane. It controls everything that enters and leaves the cell. There are two basic ways that substances can cross the plasma membrane: passive transport — which requires no energy expenditure by the cell — and active transport — which requires energy from the cell.

Passive transport occurs when substances cross the plasma membrane without any input of energy from the cell. No energy is required because the substances are moving from an area where they have a higher concentration to an area where they have a lower concentration. Concentration refers to the number of particles of a substance per unit of volume. The more particles of a substance in a given volume, the higher the concentration. A substance always moves from an area where it is more concentrated to an area where it is less concentrated.

There are several different types of passive transport, including simple diffusion, osmosis, and facilitated diffusion. Each type is described below.

Simple Diffusion

Diffusion is the movement of a substance due to a difference in concentration. It happens without any help from other molecules. The substance simply moves from the area where it is more concentrated to the area where it is less concentrated. Picture someone spraying perfume in the corner of a room.  Do the perfume molecules stay in the corner?  No, they spread out, or diffuse throughout the room until they are evenly spread out.  Figure 4.7.2 shows how diffusion works across a cell membrane. Substances that can squeeze between the lipid molecules in the plasma membrane by simple diffusion are generally very small, hydrophobic molecules, such as molecules of oxygen and carbon dioxide.

Osmosis is a special type of diffusion — the diffusion of water molecules across a membrane. Like other molecules, water moves from an area of higher concentration to an area of lower concentration. Water moves in or out of a cell until its concentration is the same on both sides of the plasma membrane.  In Figure 4.7.3, the dotted red line shows a semi-permeable membrane.  In the first beaker, there is an uneven concentration of solutes on either side of the membrane, but the solute cannot cross — diffusion of the solute can't occur.  In this case, water will move to even out the concentration as has happened on the beaker on the right side.  The water levels are uneven, but the process of osmosis has evened out the concentration gradient.

Facilitated Diffusion

Water and many other substances cannot simply diffuse across a membrane. Hydrophilic molecules, charged ions, and relatively large molecules (such as glucose) all need help with diffusion. This help comes from special proteins in the membrane known as transport proteins. Diffusion with the help of transport proteins is called facilitated diffusion. There are several types of transport proteins, including channel proteins and carrier proteins. Both are shown in Figure 4.7.4.

• Channel proteins form pores (or tiny holes) in the membrane. This allows water molecules and small ions to pass through the membrane without coming into contact with the hydrophobic tails of the lipid molecules in the interior of the membrane.
• Carrier proteins bind with specific ions or molecules. In doing so, they change shape. As carrier proteins change shape, they carry the ions or molecules across the membrane.

For a cell to function normally, the inside of it must maintain a stable state. The concentrations of salts, nutrients, and other substances must be kept within certain ranges. The state in which stable conditions are maintained inside a cell (or an entire organism) is called homeostasis. Homeostasis requires constant adjustments, because conditions are always changing both inside and outside the cell. The transport of substances into and out of cells as described in this section plays an important role in homeostasis. By allowing the movement of substances into and out of cells, transport keeps conditions within normal ranges inside the cells and throughout the organism as a whole.

Watch this video "Cell Transport," by the Amoeba Sisters:

https://www.youtube.com/watch?v=Ptmlvtei8hw

Cell Transport with the Amoeba Sisters, 2016.

Attributions

Figure 4.7.1

Windows/ The Oyster Suite in Eureka, CA by Drew Coffman on Unsplash is used under the Unsplash License https://unsplash.com/license).

Figure 4.7.2

Diffusion/ Scheme simple diffusion in cell membrane  by Mariana Ruiz Villarreal [LadyofHats] is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 4.7.3

Osmosis by OpenStax on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 4.7.4

Scheme facilitated diffusion in cell membrane by Mariana Ruiz Villarreal [LadyofHats] is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).

References

Amoeba Sisters. (2016, June 24). Cell transport. YouTube. https://www.youtube.com/watch?v=Ptmlvtei8hw&feature=youtu.be

Amoeba Sisters. (2018, June 27). Osmosis and water potential. YouTube.  https://www.youtube.com/watch?v=L-osEc07vMs&feature=youtu.be

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, April 25). Figure 3.7 Osmosis [digital image]. In Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/3-1-the-cell-membrane

Professor Dave Explains. (2016, September 5). Structure of the cell membrane - Active and passive transport. https://www.youtube.com/watch?v=AcrqIxt8am8&feature=youtu.be

 

 

Created by CK-12 Foundation/Adapted by Christine Miller

Imagine the man in Figure 12.3.1 turns his eyes in your direction. This is a very small movement, considering the conspicuously large and strong external eye muscles that control eyeball movements. These muscles have been called the strongest muscles in the human body relative to the work they do. However, the external eye muscles actually do a surprising amount of work. Eye movements occur almost constantly during waking hours, especially when we are scanning faces or reading. Eye muscles are also exercised nightly during the phase of sleep called rapid eye movement sleep. External eye muscles can move the eyes because they are made mainly of muscle tissue.

Muscle tissue is a soft tissue that makes up most of the tissues in the muscles of the human muscular system. Other tissues in muscles are connective tissues, such as tendons that attach skeletal muscles to bones and sheaths of connective tissues that cover or line muscle tissues. Only muscle tissue per se, has cells with the ability to contract.

There are three major types of muscle tissues in the human body: skeletal, smooth, and cardiac muscle tissues. Figure 12.3.2 shows how the three types of muscle tissues appear under magnification. When you read about each type below, you will learn why the three types appear as they do.

Skeletal muscle is muscle tissue that is attached to bones by tendons, which are bundles of collagen fibres. Whether you are moving your eyes or running a marathon, you are using skeletal muscles. Contractions of skeletal muscles are voluntary, or under conscious control of the central nervous system via the somatic nervous system. Skeletal muscle tissue is the most common type of muscle tissue in the human body. By weight, an average adult male is about 42% skeletal muscles, and the average adult female is about 36% skeletal muscles. Some of the major skeletal muscles in the human body are labeled in Figure 12.3.3 below.

Skeletal Muscle Pairs

To move bones in opposite directions, skeletal muscles often consist of muscle pairs that work in opposition to one another, also called antagonistic muscle pairs.  For example, when the biceps muscle (on the front of the upper arm) contracts, it can cause the elbow joint to flex or bend the arm, as shown in Figure 12.3.4. When the triceps muscle (on the back of the upper arm) contracts, it can cause the elbow to extend or straighten the arm. The biceps and triceps muscles, also shown in Figure 12.3.4, are an example of a muscle pair where the muscles work in opposition to each other.

Skeletal Muscle Structure

Each skeletal muscle consists of hundreds — or even thousands — of skeletal muscle fibres, which are long, string-like cells. As shown in Figure 12.3.5 below, skeletal muscle fibres are individually wrapped in connective tissue called endomysium. The skeletal muscle fibres are bundled together in units called muscle fascicles, which are surrounded by sheaths of connective tissue called perimysium. Each fascicle contains between ten and 100 (or even more!) skeletal muscle fibres. Fascicles, in turn, are bundled together to form individual skeletal muscles, which are wrapped in connective tissue called epimysium. The connective tissues in skeletal muscles have a variety of functions. They support and protect muscle fibres, allowing them to withstand the forces of contraction by distributing the forces applied to the muscle. They also provide pathways for nerves and blood vessels to reach the muscles. In addition, the epimysium anchors the muscles to tendons.

The same bundles-within-bundles structure is replicated within each muscle fibre. As shown in Figure 12.3.6, a muscle fibre consists of a bundle of myofibrils, which are themselves bundles of protein filaments. These protein filaments consist of thin filaments of the protein actin, which are anchored to structures called Z discs, and thick filaments of the protein myosin. The filaments are arranged together within a myofibril in repeating units called sarcomeres, which run from one Z disc to the next. The sarcomere is the basic functional unit of skeletal and cardiac muscles. It contracts as actin and myosin filaments slide over one another. Skeletal muscle tissue is said to be striated, because it appears striped. It has this appearance because of the regular, alternating A (dark) and I (light) bands of filaments arranged in sarcomeres inside the muscle fibres. Other components of a skeletal muscle fibre include multiple nuclei and mitochondria.

Slow- and Fast-Twitch Skeletal Muscle Fibres

Skeletal muscle fibres can be divided into two types, called slow-twitch (or type I) muscle fibres and fast-twitch (or type II) muscle fibres.

• Slow-twitch muscle fibres are dense with capillaries and rich in mitochondria and myoglobin, which is a protein that stores oxygen until needed for muscle activity. Relative to fast-twitch fibres, slow-twitch fibres can carry more oxygen and sustain aerobic (oxygen-using) activity. Slow-twitch fibres can contract for long periods of time, but not with very much force. They are relied upon primarily in endurance events, such as distance running or cycling.
• Fast-twitch muscle fibres contain fewer capillaries and mitochondria and less myoglobin. This type of muscle fibre can contract rapidly and powerfully, but it fatigues very quickly. Fast-twitch fibres can sustain only short, anaerobic (non-oxygen-using) bursts of activity. Relative to slow-twitch fibres, fast-twitch fibres contribute more to muscle strength and have a greater potential for increasing in mass. They are relied upon primarily in short, strenuous events, such as sprinting or weightlifting.

Proportions of fibre types vary considerably from muscle to muscle and from person to person. Individuals may be genetically predisposed to have a larger percentage of one type of muscle fibre than the other. Generally, an individual who has more slow-twitch fibres is better suited for activities requiring endurance, whereas an individual who has more fast-twitch fibres is better suited for activities requiring short bursts of power.

Smooth muscle is muscle tissue in the walls of internal organs and other internal structures such as blood vessels. When smooth muscles contract, they help the organs and vessels carry out their functions. When smooth muscles in the stomach wall contract, for example, they squeeze the food inside the stomach, helping to mix and churn the food and break it into smaller pieces. This is an important part of digestion. Contractions of smooth muscles are involuntary, so they are not under conscious control. Instead, they are controlled by the autonomic nervous system, hormones, neurotransmitters, and other physiological factors.

Structure of Smooth Muscle

The cells that make up smooth muscle are generally called myocytes. Unlike the muscle fibres of striated muscle tissue, the myocytes of smooth muscle tissue do not have their filaments arranged in sarcomeres. Therefore, smooth tissue is not striated. However, the myocytes of smooth muscle do contain myofibrils, which in turn contain bundles of myosin and actin filaments. The filaments cause contractions when they slide over each other, as shown in Figure 12.3.7.

Unlike striated muscle, smooth muscle can sustain very long-term contractions. Smooth muscle can also stretch and still maintain its contractile function, which striated muscle cannot. The elasticity of smooth muscle is enhanced by an extracellular matrix secreted by myocytes. The matrix consists of elastin, collagen, and other stretchy fibres. The ability to stretch and still contract is an important attribute of smooth muscle in organs such as the stomach and uterus (see Figures 12.3.8 and 12.3.9), both of which must stretch considerably as they perform their normal functions.

The following list indicates where many smooth muscles are found, along with some of their specific functions.

• Walls of organs of the gastrointestinal tract (such as the esophagus, stomach, and intestines), moving food through the tract by peristalsis
• Walls of air passages of the respiratory tract (such as the bronchi), controlling the diameter of the passages and the volume of air that can pass through them
• Walls of organs of the male and female reproductive tracts; in the uterus, for example, pushing a baby out of the uterus and into the birth canal
• Walls of structures of the urinary system, including the urinary bladder, allowing the bladder to expand so it can hold more urine, and then contract as urine is released
• Walls of blood vessels, controlling the diameter of the vessels and thereby affecting blood flow and blood pressure
• Walls of lymphatic vessels, squeezing the fluid called lymph through the vessels
• Iris of the eyes, controlling the size of the pupils and thereby the amount of light entering the eyes
• Arrector pili in the skin, raising hairs in hair follicles in the dermis

Cardiac muscle is found only in the wall of the heart. It is also called myocardium. As shown in Figure 12.3.10, myocardium is enclosed within connective tissues, including the endocardium on the inside of the heart and pericardium on the outside of the heart. When cardiac muscle contracts, the heart beats and pumps blood. Contractions of cardiac muscle are involuntary, like those of smooth muscles. They are controlled by electrical impulses from specialized cardiac muscle cells in an area of the heart muscle called the sinoatrial node.

Like skeletal muscle, cardiac muscle is striated because its filaments are arranged in sarcomeres inside the muscle fibres. However, in cardiac muscle, the myofibrils are branched at irregular angles rather than arranged in parallel rows (as they are in skeletal muscle). This explains why cardiac and skeletal muscle tissues look different from one another.

The cells of cardiac muscle tissue are arranged in interconnected networks. This arrangement allows rapid transmission of electrical impulses, which stimulate virtually simultaneous contractions of the cells. This enables the cells to coordinate contractions of the heart muscle.

The heart is the muscle that performs the greatest amount of physical work in the course of a lifetime. Although the power output of the heart is much less than the maximum power output of some other muscles in the human body, the heart does its work continuously over an entire lifetime without rest. Cardiac muscle contains a great many mitochondria, which produce ATP for energy and help the heart resist fatigue.

Cardiomyopathy is a disease in which the muscles of the heart are no longer able to effectively pump blood to the body — extreme forms of this disease can lead to heart failure.  There are four main types of cardiomyopathy (also illustrated in Figure 12.3.11):

• Dilated (congestive) cardiomyopathy: the left ventricle (the chamber itself) of the heart becomes enlarged and can't pump blood our to the body.  This is normally related to coronary artery disease and/or heart attack
• Hypertrophic cardiomyopathy: abnormal thickening of the muscular walls of the left ventricle make the chamber less able to work properly.  This condition is more common in patients with a family history of the disease.
• Restrictive cardiomyopathy: the myocardium becomes abnormally rigid and inelastic and is unable to expand in between heartbeats to refill with blood.  Restrictive cardiomyopathy typically affects older people.
• Arrhythmogenic right ventricular cardiomyopathy: the right ventricular muscle is replaced by adipose or scar tissue, reducing elasticity and interfering with normal heartbeat and rhythm.  This disease is often caused by genetic mutations.

Cardiomyopathy is typically diagnosed with a physical exam supplemented by medical and family history, an angiogram, blood tests, chest x-rays and electrocardiograms.  In some cases your doctor would also requisition a CT scan and/or genetic testing.

When treating cardiomyopathy, the goal is to reduce symptoms that affect everyday life.  Certain medications can help regularize and slow heart rate, decrease chances of blood clots and cause vasodilation in the coronary arteries.  If medication is not sufficient to manage symptoms, a pacemaker or even a heart transplant may be the best option.  Lifestyle can also help manage the symptoms of cardiomyopathy — people living with this disease are encouraged to avoid drug and alcohol use, control high blood pressure, eat a healthy diet, get ample rest and exercise, as well as reduce stress levels.

 

Attributions

Figure 12.3.1

Look by ali-yahya-155huuQwGvA [photo] by Ali Yahya on Unsplash is used under the Unsplash License (https://unsplash.com/license).

Figure 12.3.2

Skeletal_Smooth_Cardiac by OpenStax College on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 12.3.3

Anterior_and_Posterior_Views_of_Muscles by OpenStax on Wikimedia Commons is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0) license.

Figure 12.3.4

Antagonistic Muscle Pair by Laura Guerin at CK-12 Foundation on Wikimedia Commons is used under a CC BY-NC 3.0 (https://creativecommons.org/licenses/by-nc/3.0/) license. 

Figure 12.3.5

Muscle_Fibes_(large) by OpenStax on Wikimedia Commons is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0) license.

Figure 12.3.6

Muscle_Fibers_(small) by OpenStax on Wikimedia Commons is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0) license.

Figure 12.3.7

Smooth_Muscle_Contraction by OpenStax on Wikimedia Commons is used under a CC BY 4.0 (https://creativecommons.org/licenses/by/4.0) license.

Figure 12.3.8

Blausen_0747_Pregnancy by BruceBlaus on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 12.3.9

Size_of_Uterus_Throughout_Pregnancy-02 by OpenStax College on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 12.3.10

1024px-Blausen_0470_HeartWall by BruceBlaus on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 12.3.11

Tipet_e_kardiomiopative by Npatchett at English Wikipedia on Wikimedia Commons is used under a CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) license. (Work derived from Blausen 0165 Cardiomyopathy Dilated by BruceBlaus)

References

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure 4.18 Muscle tissue [digital image].  In Anatomy and Physiology (Section 4.4). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/4-4-muscle-tissue-and-motion

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, June 19). Figure 28.18 Size of uterus throughout pregnancy [digital image].  In Anatomy and Physiology (Section 28.4). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/28-4-maternal-changes-during-pregnancy-labor-and-birth

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2016, May 18). Figure 10.3 The three connective tissue layers [digital image].  In Anatomy and Physiology (Section 10.2). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/10-2-skeletal-muscle

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2016, May 18). Figure 10.4 Muscle fiber [digital image].  In Anatomy and Physiology (Section 10.2). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/10-2-skeletal-muscle

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2016, May 18). Figure 10.24 Muscle contraction [digital image].  In Anatomy and Physiology (Section 10.8). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/10-8-smooth-muscle

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2016, May 18). Figure 11.5 Overview of the muscular system [digital image].  In Anatomy and Physiology (Section 11.2). OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/11-2-naming-skeletal-muscles

Blausen.com staff. (2014). Medical gallery of Blausen Medical 2014. WikiJournal of Medicine 1 (2). DOI:10.15347/wjm/2014.010. ISSN 2002-4436.

Brainard, J/ CK-12 Foundation. (2012). Figure 5 Triceps and biceps muscles in the upper arm are opposing muscles. [digital image]. In CK-12 Biology (Section 21.3) [online Flexbook]. CK12.org. https://www.ck12.org/book/ck-12-biology/section/21.3/ (Last modified August 11, 2017.)

khanacademymedicine. (2012, October 19). Three types of muscle | Circulatory system physiology | NCLEX-RN | Khan Academy. YouTube.

TED-Ed. (2017, February 14).  What happens during a heart attack? - Krishna Sudhir. YouTube. https://www.youtube.com/watch?v=3_PYnWVoUzM&feature=youtu.be

Created by: CK-12/Adapted by Christine Miller

Look at the big windows in this house (Figure 4.7.1). Imagine all the light they must let in on a sunny day. Now imagine living in a house that has walls without any windows or doors. Nothing could enter or leave. Or imagine living in a house with holes in the walls instead of windows and doors. Things could enter or leave, but you couldn’t control what came in or went out. Only when a house has walls with windows and doors that can be opened or closed, can you control what enters or leaves. Windows and doors allow you to let in light and the family dog and keep out rain and bugs, for example.

If a cell were a house, the plasma membrane would be walls with windows and doors. Moving things in and out of the cell is an important function of the plasma membrane. It controls everything that enters and leaves the cell. There are two basic ways that substances can cross the plasma membrane: passive transport — which requires no energy expenditure by the cell — and active transport — which requires energy from the cell.

Passive transport occurs when substances cross the plasma membrane without any input of energy from the cell. No energy is required because the substances are moving from an area where they have a higher concentration to an area where they have a lower concentration. Concentration refers to the number of particles of a substance per unit of volume. The more particles of a substance in a given volume, the higher the concentration. A substance always moves from an area where it is more concentrated to an area where it is less concentrated.

There are several different types of passive transport, including simple diffusion, osmosis, and facilitated diffusion. Each type is described below.

Simple Diffusion

Diffusion is the movement of a substance due to a difference in concentration. It happens without any help from other molecules. The substance simply moves from the area where it is more concentrated to the area where it is less concentrated. Picture someone spraying perfume in the corner of a room.  Do the perfume molecules stay in the corner?  No, they spread out, or diffuse throughout the room until they are evenly spread out.  Figure 4.7.2 shows how diffusion works across a cell membrane. Substances that can squeeze between the lipid molecules in the plasma membrane by simple diffusion are generally very small, hydrophobic molecules, such as molecules of oxygen and carbon dioxide.

Osmosis is a special type of diffusion — the diffusion of water molecules across a membrane. Like other molecules, water moves from an area of higher concentration to an area of lower concentration. Water moves in or out of a cell until its concentration is the same on both sides of the plasma membrane.  In Figure 4.7.3, the dotted red line shows a semi-permeable membrane.  In the first beaker, there is an uneven concentration of solutes on either side of the membrane, but the solute cannot cross — diffusion of the solute can't occur.  In this case, water will move to even out the concentration as has happened on the beaker on the right side.  The water levels are uneven, but the process of osmosis has evened out the concentration gradient.

Facilitated Diffusion

Water and many other substances cannot simply diffuse across a membrane. Hydrophilic molecules, charged ions, and relatively large molecules (such as glucose) all need help with diffusion. This help comes from special proteins in the membrane known as transport proteins. Diffusion with the help of transport proteins is called facilitated diffusion. There are several types of transport proteins, including channel proteins and carrier proteins. Both are shown in Figure 4.7.4.

• Channel proteins form pores (or tiny holes) in the membrane. This allows water molecules and small ions to pass through the membrane without coming into contact with the hydrophobic tails of the lipid molecules in the interior of the membrane.
• Carrier proteins bind with specific ions or molecules. In doing so, they change shape. As carrier proteins change shape, they carry the ions or molecules across the membrane.

For a cell to function normally, the inside of it must maintain a stable state. The concentrations of salts, nutrients, and other substances must be kept within certain ranges. The state in which stable conditions are maintained inside a cell (or an entire organism) is called homeostasis. Homeostasis requires constant adjustments, because conditions are always changing both inside and outside the cell. The transport of substances into and out of cells as described in this section plays an important role in homeostasis. By allowing the movement of substances into and out of cells, transport keeps conditions within normal ranges inside the cells and throughout the organism as a whole.

Watch this video "Cell Transport," by the Amoeba Sisters:

https://www.youtube.com/watch?v=Ptmlvtei8hw

Cell Transport with the Amoeba Sisters, 2016.

Attributions

Figure 4.7.1

Windows/ The Oyster Suite in Eureka, CA by Drew Coffman on Unsplash is used under the Unsplash License https://unsplash.com/license).

Figure 4.7.2

Diffusion/ Scheme simple diffusion in cell membrane  by Mariana Ruiz Villarreal [LadyofHats] is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).

Figure 4.7.3

Osmosis by OpenStax on Wikimedia Commons is used under a CC BY 3.0 (https://creativecommons.org/licenses/by/3.0) license.

Figure 4.7.4

Scheme facilitated diffusion in cell membrane by Mariana Ruiz Villarreal [LadyofHats] is released into the public domain (https://en.wikipedia.org/wiki/Public_domain).

References

Amoeba Sisters. (2016, June 24). Cell transport. YouTube. https://www.youtube.com/watch?v=Ptmlvtei8hw&feature=youtu.be

Amoeba Sisters. (2018, June 27). Osmosis and water potential. YouTube.  https://www.youtube.com/watch?v=L-osEc07vMs&feature=youtu.be

Betts, J. G., Young, K.A., Wise, J.A., Johnson, E., Poe, B., Kruse, D.H., Korol, O., Johnson, J.E., Womble, M., DeSaix, P. (2013, April 25). Figure 3.7 Osmosis [digital image]. In Anatomy and Physiology. OpenStax. https://openstax.org/books/anatomy-and-physiology/pages/3-1-the-cell-membrane

Professor Dave Explains. (2016, September 5). Structure of the cell membrane - Active and passive transport. https://www.youtube.com/watch?v=AcrqIxt8am8&feature=youtu.be

 

 

Created by: CK-12/Adapted by Christine Miller

Jumping for Joy!

The people in Figure 6.2.1 illustrate some of the great phenotypic variation displayed in modern Homo sapiens. The lighter-skinned men in the photo are Euro-American tourists in Kenya (East Africa). The darker-skinned men are native Kenyans who belong to a tribal group named the Maasai. These men come from populations on different continents on opposite sides of the globe. Their populations have unique histories, environments, and cultures. Besides differences in skin colour, the men have different hair and eye colours, facial features, and body builds. Based on such obvious physical differences, you might think that our species is characterized by a high degree of genetic variation. In fact, there is much less genetic variation in the human species than there is in many other mammalian species, including our closest relatives — the chimpanzees.

No two human individuals are genetically identical unless they are monozygotic (identical) twins. Between any two people, DNA differs, on average, at about one in one thousand nucleotide base pairs. We each have a total of about three billion base pairs, so any two people differ by an average of about three million base pairs. That may sound like a lot, but it's only 0.1% of our total genetic makeup. This means that two people chosen at random are likely to be 99.9 per cent identical genetically, no matter where in the world they come from.

At an individual level, most human genetic variation is not very important biologically, because it has no apparent adaptive significance. It neither enhances nor detracts from individual fitness. Only a small percentage of DNA variations actually occur in coding regions of DNA — which are sequences that are translated into proteins — or in regulatory regions, which are sequences that control gene expression. Differences that occur in other regions of DNA have no impact on phenotype. Even variations in coding regions of DNA may or may not affect phenotype. Some DNA variations may alter the amino acid sequence of a protein, but not affect how the protein functions. Other DNA variations do not even change the amino acid sequence of the encoded protein.

At a population level, genetic variation is crucial if evolution is to occur. Genetically-based differences in fitness among individuals are the key to evolution by natural selection. Without genetic variation within populations, there can be no differential fitness by genotype, and natural selection cannot occur.

Patterns of Human Genetic Variation

Data comparing DNA sequences from around the world show that only about ten per cent of our total genetic variation occurs between people from different continents, like the American tourists and African Maasai pictured in Figure 6.1.1. The other 90 per cent of genetic variation occurs between people within continental populations, such as between North Americans or between Africans. Within any human population, many genes have two or more normal alleles that contribute to genetic differences among individuals. The case in which a gene has two or more alleles in a population at frequencies greater than one per cent is called a polymorphism. A single nucleotide polymorphism (SNP) involves variation in just one nucleotide in a DNA sequence. SNPs account for most of our genetic differences. Other types of variations (such as deletions and insertions of nucleotides in DNA sequences) account for a much smaller proportion of our overall genetic variation.

Different populations may have different allele frequencies for polymorphic genes. However, the distribution of allele frequencies in different populations around the world tends not to be discrete or distinct. Instead, the pattern is more often one of gradual geographic variations, or clines, in allele frequencies. You can see an example of a clinal distribution of allele frequencies in the map (Figure 6.2.2) below. Clinal distributions like this may be a reflection of natural selection pressures varying continuously over geographic space, or they may reflect a combination of genetic drift and gene flow of neutral alleles.

The reason for the different population frequencies for the Duffy antigen appears to be natural selection. People who lack the Duffy antigen are relatively resistant to malaria, which is one of the oldest and most devastating human diseases. Malaria has been a persistent and widespread disease in sub-Saharan Africa for tens of thousands of years. DNA analyses suggest that the allele associated with lack of the Duffy antigen evolved at least twice in Africa and was strongly selected for, causing it to increase in frequency. The Duffy gene is just one of many genes that have polymorphic alleles, because one of the alleles protects against malaria. In fact, a greater number of known genetic polymorphisms may be attributed to selection because of malaria than any other single selective agent.

Factors Influencing the Level of Human Genetic Variation

The age and size of a population increases the genetic variation within that population. You would expect an older, larger population to have more genetic variation. The older a population is, the longer it has been accumulating mutations. The larger a population is, the more people there are in which mutations can occur. Anatomically modern humans evolved less than a quarter million years ago, which is a relatively short period of time for mutations to accumulate. Our population was also quite small at some point in the past, perhaps consisting of no more than ten thousand adults, which reduced genetic variation even more. These factors explain why humans are relatively homogeneous genetically as a species.

Knowledge of genetic variation can help us understand our similarities and differences, our origins, and our evolutionary past. It can also help us understand human diseases and — hopefully — find new ways to treat them.

Human Origins

The data on human genetic variation generally supports the out-of-Africa hypothesis for human origins. According to this hypothesis, the common ancestor of all modern humans evolved in Africa around 200 thousand years ago. Then, starting no later than about 60 thousand years ago, part of the African population left Africa and migrated to Europe and Asia. As the migrants spread throughout the Old World, they replaced (and/or absorbed) the populations of archaic humans they encountered.

Most studies of human genetic variation find there is greater genetic diversity in African than non-African populations. This is consistent with the older age of the African population proposed by the out-of-Africa hypothesis. In addition, most of the genetic variation in non-African populations is a subset of the variation in African populations. This is consistent with the idea that part of the African population left Africa much later and migrated to other places in the Old World.

Recent comparisons of modern human and archaic human (including Neanderthal and Denisovan) DNA show that interbreeding occurred between their populations, but to differing degrees. The result of new DNA sequences entering a population’s gene pool through interbreeding is called admixture. There is greater admixture with archaic humans in modern European, Asian, and Oceanic populations than in modern African populations. Populations with the greatest admixture are those in Melanesia. About eight per cent of their DNA came from archaic Denisovans in East Asia.

Human Population History

Patterns of human genetic variation can be used to reconstruct population history. That history is literally recorded in our DNA. Any major population event (such as a significant reduction in population size or a high rate of migration) leaves a mark on a population’s genetic variation.

• Going through a dramatic size reduction decreases intra-population genetic variation (variation occurring within a population). As a case in point, DNA analyses suggest that there may have been drastic size reductions in the human populations that colonized the New World between 15 thousand and 20 thousand years ago. There were also size reductions in the human populations that first left Africa at least 60 thousand years ago, which helps explain the lower genetic diversity of modern non-African populations.
• A high rate of migration between populations may lead to gene flow, and this changes genetic variation in two ways. Gene flow decreases inter-population genetic variation (variation occurring between populations), while it increases intra-population variation. Gene flow — primarily between nearby populations — may contribute to the formation of clines in allele frequencies, as on the map in Figure 6.2.2.

Human Genetic Variation and Disease

An important benefit of studying human genetic variation is that we can learn more about the genetic basis of human diseases. The more we understand the causes of diseases, the more likely it is that we will be able to find effective treatments and cures for them.

Some disorders are caused by mutations in a single gene. Most of these disorders are generally rare, but some of them occur at significantly higher frequencies in certain populations. For example, Ellis-van Creveld syndrome has an unusually high frequency in Pennsylvania Amish populations, and Tay-Sachs disease has a relatively high frequency in Ashkenazi Jewish populations. Albinism is another single-gene disorder that has a variable frequency. In North America and Europe, rates of albinism are approximately 1:18,000. In Africa, in contrast, the rates range from 1:5,000 to 1:15,000. Some African populations have estimated albinism rates as high as 1:1000. The photo below (Figure 6.2.3) shows an African albino man from Mali, where there is a relatively high rate of albinism. High population-specific frequencies of single-gene disorders like these may be attributable to a variety of factors, such as small founding populations and a relative lack of gene flow.

 

Attributions

Figure 6.2.1

Maasai_men_and_tourists_jumping by Christopher Michel on Wikimedia Commons is used under a CC BY 2.0 (https://creativecommons.org/licenses/by/2.0/deed.en) (license.

Figure 6.2.2

Geospatial_distribution_of_SNP_rs1426654-A_allele by Basu Mallick C, Iliescu FM, Möls M, Hill S, Tamang R, Chaubey G, et al. on Wikimedia Commons is used under a  CC BY 2.5 (https://creativecommons.org/licenses/by/2.5/deed.en) license.

Figure 6.2.3

Mali_Salif_Keita2_400 [cropped] by unknown from The Department of State, Washington, DC. on Wikimedia Commons is in the public domain (https://en.wikipedia.org/wiki/Public_domain).

References

Basu Mallick C., Iliescu, F.M., Möls, M., Hill, S., Tamang, R., Chaubey, G., et al. (2013). The light skin allele of SLC24A5 in South Asians and Europeans shares identity by descent: Figure 2. Isofrequency map illustrating the geospatial distribution of SNP rs1426654-A allele across the world. PLoS Genetics, 9(11): e1003912. doi:10.1371/journal.pgen.1003912 http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1003912

HealthLinkBC. (2019, November 5). Health topics: Malaria [online article]. BC Government (gov.bc.ca). https://www.healthlinkbc.ca/health-topics/hw119119

Mayo Clinic Staff. (n.d.). Albinism [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/albinism/symptoms-causes/syc-20369184

Mayo Clinic Staff. (n.d.). Heart disease [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/heart-disease/symptoms-causes/syc-20353118

Mayo Clinic Staff. (n.d.). HIV/AIDS [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/hiv-aids/symptoms-causes/syc-20373524

Mayo Clinic Staff. (n.d.). Type 2 diabetes [online article]. MayoClinic.org. https://www.mayoclinic.org/diseases-conditions/type-2-diabetes/symptoms-causes/syc-20351193

National Geographic. (2013, March 13). The journey of your past | National Geographic. YouTube. https://www.youtube.com/watch?v=RGtaq3PiIoU&feature=youtu.be

National Institutes of Health/ National Library of Medicine. (n.d.). Genes: CCR5 gene - C-C motif chemokine receptor 5 [online article]. US Government. https://ghr.nlm.nih.gov/gene/CCR5

National Organization for Rare Disorders (NORD). (2012). Ellis Van Creveld syndrome [online article]. RareDiseases.org. https://rarediseases.org/rare-diseases/ellis-van-creveld-syndrome/

National Organization for Rare Disorders (NORD). (2017). Tay Sachs disease [online article]. RareDiseases.org. https://rarediseases.org/rare-diseases/tay-sachs-disease/

Seeker. (2015, July 25). Why are some people albino?. YouTube. https://www.youtube.com/watch?v=cHRM2S_fBOk&feature=youtu.be

TED. (2011, August 30). Svante Pääbo: DNA clues to our inner neanderthal. YouTube. https://www.youtube.com/watch?v=kU0ei9ApmsY&feature=youtu.be

Wikipedia contributors. (2020, June 18). Melanesia. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Melanesia&oldid=963224885

Wikipedia contributors. (2020, June 4). Old world. In Wikipedia. https://en.wikipedia.org/w/index.php?title=Old_World&oldid=960713597

 

 

 

image shows a diagram of the location of each type of tooth on the bottom jaw. Per side, there are three molars at the very back, just in front of the molars there are two submolars per side, and then one canine on each side. At the very front and center of the lower jaw are four incisors.

Image shows a diagram of Thrombocytes in their normal state and activated.
Thrombocytes (platelets) are typically ovoid during normal circulation, but when activated become super fibrous. The not activated platelets look like very smooth and the activated platelets look like sea anemones- lots of little projects sticking out of their surface.

one of a pair of glands located on top of the kidneys that secretes hormones such as cortisol and adrenaline

The body system which acts as a chemical messenger system comprising feedback loops of the hormones released by internal glands of an organism directly into the circulatory system, regulating distant target organs. In humans, the major endocrine glands are the thyroid gland and the adrenal glands.