Problem Associated With Duchenne Muscular Dystrophy ( Dmd )

1477 WordsMar 29, 20156 Pages
One major problem associated with Duchenne Muscular Dystrophy (DMD) is the prevalence of fibrosis that occurs in the skeletal muscles, heart, and lungs of these patients. In the heart and lungs, fibrosis inhibits the body’s ability to perform cardiopulmonary or respiratory function, respectively. These conditions typically result in death if no emergency medical attention is given. Fibrosis can also present as contractures in the skeletal muscle fibers, which will usually result in the loss of skeletal muscular function and the need for surgery. DMD is caused by a mutation in the X-linked dystrophin gene, which results in a dysfunctional dystrophin protein. Dystrophin is a cytoskeletal protein that provides mechanical stability to muscle cells by connecting the muscle sarcolemma to the basal lamina of the extracellular matrix (ECM), and without it there, the muscle cells typically undergo a process of degeneration and regeneration. This process is limited by the survival of satellite cells present since satellite cells can only undergo mitosis a limited amount of times. Sarcolemma instability typically results in excess intracellular amounts of both sodium and calcium, which causes ATP depletion and mitochondrial uncoupling (Horn & Schleip, 2012). Satellite cells only have a limited number times they can undergo mitosis, and once a patient can no longer generate healthy muscle cells, the patient will typically experience cell death. This cell death and necrosis usually
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