The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies

Neuromuscul Disord. 1993 Sep-Nov;3(5-6):533-5. doi: 10.1016/0960-8966(93)90110-6.

Abstract

The dystrophin-glycoprotein complex is considered to be a major trans-sarcolemmal structure which provides a linkage between the subsarcolemmal actin cytoskeleton and the extracellular matrix component laminin. Recently, deficiency of the dystrophin-associated proteins has been shown to play an important role in the molecular pathogenesis of several forms of muscular dystrophy. These include Duchenne muscular dystrophy (DMD), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype prevalent in North Africa. In Fukuyama-type congenital muscular dystrophy (FCMD), the finding of abnormal expression of the dystrophin-associated proteins may provide a clue to its molecular pathogenesis. These recent findings indicate that the linkage between the subsarcolemmal cytoskeleton and extracellular matrix via the dystrophin-glycoprotein complex is critical for maintaining the integrity of muscle cell function.

Publication types

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

MeSH terms

  • Child
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / physiology*
  • Dystroglycans
  • Dystrophin / genetics
  • Dystrophin / physiology*
  • Genes, Recessive
  • Genetic Carrier Screening
  • Humans
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / physiology*
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / physiopathology*
  • Sequence Deletion

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Dystrophin
  • Membrane Glycoproteins
  • Dystroglycans