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Function

Connection to Duchenne Muscular Dystrophy

Dystrophin is a vital protein involved in the structure and function of skeletal and cardiac muscles in the human body. Deficiency of the correctly folded version of this protein leads to a disease called Duchenne Muscular Dystrophy. Duchenne Muscular Dystrophy is an X- linked recessive disorder caused by frame-shift and/or nonsense mutations in the DMD gene, which leads to misfolded and nonfunctional forms of dystrophin in the body. This disorder affects approximately 1 out of every 3500 boys throughout the world. Duchene Muscular Dystrophy is characterized by progressive weakness and degeneration of cardiac and skeletal muscles, which leads to loss of mobilization, cardiomyopathy (weakening of the heart muscle), and eventually death. Onset of symptoms of Duchenne Muscular Dystrophy can begin at only a few years of age, and on average the effected person is wheelchair- bound by age 9.5. No cure for this debilitating disease has been found, but extensive research is being performed to find a way to increase and then keep correct levels of functional dystrophin in people with this disease.

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