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Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.
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Dystrobrevin is a protein that binds to dystrophin in the costamere of skeletal muscle cells. In humans, there are at least two isoforms of dystrobrevin, dystrobrevin alpha and dystrobrevin beta.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.
Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.
Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.
Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.
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References
- ↑ Natvig, Jacob V.; Capra, J. Donald (2006). "Henry G. Kunkel. 1916-1983" (PDF). Biographical Memoirs. Washington D.C.: National Academy of Sciences. pp. 2–19.
- ↑ Gitschier J (2005). "2004 William Allan Award Address. Introductory speech for Louis Kunk". Am J Hum Genet. 76 (2): 203–4. doi:10.1086/427957. PMC 1196362 . PMID 15714694.
- ↑ Boston Children's Hospital
- ↑ Hoffman EP, Brown RH, Kunkel LM (1987). "Dystrophin: the protein product of the Duchenne muscular dystrophy locus". Cell. 51 (6): 919–28. doi:10.1016/0092-8674(87)90579-4. PMID 3319190. S2CID 33548364.
- ↑ Bloomberg profile
- ↑ Discovery Could Speed Diagnoses of Dystrophy by HAROLD M. SCHMECK Jr. published in the May 26, 1988 issue of The New York Times
- ↑ Royal Society list of Past Winners
- ↑ The Gairdner Foundation page on Louis M. Kunkel
- ↑ E. Mead Johnson Award - Past Recipients page
- ↑ "William Allan Award at Past ASHG Award Recipients". Archived from the original on 2014-10-03. Retrieved 2015-10-22.
- ↑ MARCH OF DIMES PRIZE IN DEVELOPMENTAL BIOLOGY RECIPIENT LIST (pdf)
