Congenital Muscular Dystrophies Due to the Glycosylation Defect

  • Tamao Endo


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.


Muscular Dystrophy Congenital Muscular Dystrophy Glycosylation Defect Putative Glycosyltransferase Central Nervous System Phenotype 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Akasaka-Manya K, Manya H, Endo T (2004) Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation. Biochem Biophys Res Commun 325:75–79PubMedCrossRefGoogle Scholar
  2. Akasaka-Manya K, Manya H, Nakajima A, Kawakita M, Endo T (2006) Physical and functional association of human protein O-mannosyltransferases 1 and 2. J Biol Chem 281:19339–19345PubMedCrossRefGoogle Scholar
  3. Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T (2003) Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res Commun 306:93–97PubMedCrossRefGoogle Scholar
  4. 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

Copyright information

© Springer 2008

Authors and Affiliations

  • Tamao Endo
    • 1
  1. 1.Glycobiology Research Group, Tokyo Metropolitan Institute of GerontologyFoundation for Research on Aging and Promotion of Human WelfareTokyoJapan

Personalised recommendations