Respiratory Structures and Lung Mechanics - MCAT Biological and Biochemical Foundations of Living Systems

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Question

Duchenne Muscular Dystrophy is an X-linked recessive genetic disorder, resulting in the loss of the dystrophin protein. In healthy muscle, dystrophin localizes to the sarcolemma and helps anchor the muscle fiber to the basal lamina. The loss of this protein results in progressive muscle weakness, and eventually death.

In the muscle fibers, the effects of the disease can be exacerbated by auto-immune interference. Weakness of the sarcolemma leads to damage and tears in the membrane. The body’s immune system recognizes the damage and attempts to repair it. However, since the damage exists as a chronic condition, leukocytes begin to present the damaged protein fragments as antigens, stimulating a targeted attack on the damaged parts of the muscle fiber. The attack causes inflammation, fibrosis, and necrosis, further weakening the muscle.

Studies have shown that despite the severe pathology of the muscle fibers, the innervation of the muscle is unaffected.

Duchenne Muscular Dystrophy is usually fatal by age 30. Which of the following is the most likely cause of death for these patients?

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Answer

Duchenne Muscular Dystrophy is a muscular disorder, so cause of death will be related to muscle weakening. Two main muscles are essential to maintaining the body: the heart and the diaphragm. As the disease progresses to these muscles, causing weakening of the heart and diaphragm, the body begins to deteriorate and cause of death is usually heart failure or respiratory failure when these muscles give out.

Contraction of the diaphragm allows air to enter the lungs. A weaker contraction means less air flow, and eventually leads to respiratory failure.

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