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ANT 250I MOD 3 SLP - Essay Example

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More precisely, they are defined as “devastating genetic disorders cause progressive degeneration of skeletal muscle fibers leading to severe pain, disability,…
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Download file to see previous pages... The most common muscular dystrophy is Duchenne’s muscular dystrophy – a disease found predominantly in males and diagnosed in a period between 2 and 6 years. It afflicts as approximately 1 out of every 3, 500 births (Emery 687). DMD (abbreviation for Duchenne’s muscular dystrophy) is a result of muscle fibers degeneration and atrophy brought about by the absence/lack of dystrophin, a protein which is responsible for maintaining muscle fibers intact. Specifically, the loss-of-function mutations found in dystrophin are accountable for the disease. Dystrophin’s function is to encode a specific protein - 427-kD protein. The latter is located below the sarcolemma. Dystrophin, in alliance with the associated proteins, called dystroglycan and the sarcoglycans, takes part in a mechanically powerful link which can be traced from the extracellular matrix to the cytoskeleton that underlies it (Rybakova et al 1209). Total or partial deficiency of dystrophin ruins the dystrophin-glycoprotein complex (abbreviated as DGC), which means that cytoskeleton present in the muscle fibers is no longer linked to the matrix (Hoffman, Brown, and Kunkel, 919). Hence, no dystrophin leads to the DGC complex functional impairment, while the mechanical stress accompanying with contraction results in the degeneration or atrophy of skeletal muscle fibers, impairment of movements, plus muscle-wasting. It finally leads to the death of the afflicted male kids which is a result of respiratory or cardiac failure, or both (Rando 1575, Petrof et al 3710). According to Engwal & Wewer, the existing dystrophin deficiency found in skeletal, as well as cardiac muscles, leads to the fact that several secondary processes start activating. Among them one may find inflammation, interstitial fibrosis, and extracellular matrix degradation, which badly affect the DMD progression (Engwal & Wewer 1579).
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