Congenital Muscular Dystrophies Due to the Glycosylation Defect
Muscular dystrophies are genetic diseases that cause progressive muscle weakness and wasting. The causative genes of several muscular dystrophies have been identified in the past 15 years. The best known is the one described by Duchenne that results from mutations in the gene encoding a protein called dystrophin. Another subclass is congenital muscular dystrophies, where muscle weakness is apparent at birth or shortly afterward. The dystrophin-glycoprotein complex (DGC), a multisubunit complex comprising peripheral and integral membrane glycoproteins, links the cytoskeleton to the extracellular matrix. Dystroglycan is a central component of the DGC, a protein assembly that plays a critical role in a variety of muscular dystrophies. Recent data suggest that the aberrant protein glycosylation of a specific glycoprotein, α-dystroglycan, is the primary cause of some forms of congenital muscular dystrophy. Here, I describe the glycobiology of muscular dystrophy.
KeywordsMuscular Dystrophy Congenital Muscular Dystrophy Glycosylation Defect Putative Glycosyltransferase Central Nervous System Phenotype
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- Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Hermann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T (2001) Muscular dystrophy and neuronal migration disorder caused mutations in a glycosyltransferase, POMGnT1. Dev Cell 1:717–724PubMedCrossRefGoogle Scholar