Fukutin and alpha-dystroglycanopathies

Acta Myol. 2005 Oct;24(2):60-3.

Abstract

Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose beta1, 2-N-acetylglucosaminyltransferase (POMGnT1), respectively. Recent studies have revealed that posttranslational modification of alpha-dystroglycan is associated with these congenital muscular dystrophies with brain malformations. All are characterized by hypoglycosylated alpha-dystroglycan. Fukutin's function and the relation with other alpha-dystroglycanopathies are discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chimerism
  • Dystroglycans
  • Glycosylation
  • Humans
  • Membrane Proteins
  • Muscular Dystrophies / genetics*
  • N-Acetylglucosaminyltransferases / genetics
  • Proteins / genetics*

Substances

  • DAG1 protein, human
  • FKTN protein, human
  • Membrane Proteins
  • Proteins
  • Dystroglycans
  • N-Acetylglucosaminyltransferases
  • protein O-mannose beta-1,2-N-acetylglucosaminyltransferase