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Role of Utrophin, Sarcospan, and Glycosyltransferase Activity in the Pathogenesis of Duchenne Muscular Dystrophy and a Representative Case Study
AdvisorBaker, Josh E.
Biochemistry and Molecular Biology
Biochem and Molecular Biology
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Duchenne Muscular Dystrophy is a degenerative muscle disease that is characterized by the breakdown of skeletal muscle as a result of membrane instability. A mutation in the dystrophin gene, one of the largest gene in the human genome, results in a complete lack of dystrophin in the membrane of skeletal muscle cells. Damaged muscle fibers result in necrosis and promote the formation of fatty, connective tissue. There is presently no cure for the disease and treatment primarily consists of long-term steroid therapy to slow its progression. Current research involves examining the various mechanisms involved in stabilizing membrane proteins in the absence of dystrophin. The interactions of the proteins sarcospan and utrophin as well as related glycosyltransferase activity are further examined in depth. A case study of a 5 year old patient is discussed in order to shed light on the clinical manifestations of the disease in its early stages.