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Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6.

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

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1
Division of Functional Genomics, Osaka University Graduate School of Medicine, 2-2 B9, Yamadaoka, Suita, Osaka 565-0871, Japan.

Erratum in

  • Biochem Biophys Res Commun 2002 May 24;293(5):1579.

Abstract

Alpha-dystroglycan is a component of the dystrophin-glycoprotein-complex, which is the major mechanism of attachment between the cytoskeleton and the extracellular matrix. Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities and lissencephaly. We recently found that MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene. POMGnT1 is a glycosylation enzyme that participates in the synthesis of O-mannosyl glycan, a modification that is rare in mammals but is known to be a laminin-binding ligand of alpha-dystroglycan. Here we report a selective deficiency of alpha-dystroglycan in MEB patients. This finding suggests that alpha-dystroglycan is a potential target of POMGnT1 and that altered glycosylation of alpha-dystroglycan may play a critical role in the pathomechanism of MEB and some forms of muscular dystrophy.

PMID:
11883957
DOI:
10.1006/bbrc.2002.6608
[Indexed for MEDLINE]
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