The dystrophin-glycoprotein complex in brain development and disease

Trends Neurosci. 2012 Aug;35(8):487-96. doi: 10.1016/j.tins.2012.04.004. Epub 2012 May 23.


In addition to muscle disease, defects in processing and assembly of the dystrophin-glycoprotein complex (DGC) are associated with a spectrum of brain abnormalities ranging from mild cognitive impairment (MCI) to neuronal migration disorders. In brain, the DGC is involved in the organisation of GABA(A) receptors (GABA(A)Rs) and aquaporin-4 (AQP4)-containing protein complexes in neurons and glia, respectively. During development, defects in the glycosylation of α-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. Furthermore, mutations in the gene encoding ɛ-sarcoglycan (SGCE) cause the neurogenic movement disorder myoclonus dystonia syndrome. In this review, we describe recent progress in defining distinct roles for the DGC in neurons and glia.

Publication types

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

MeSH terms

  • Animals
  • Brain / metabolism
  • Brain / pathology*
  • Brain Diseases / genetics
  • Brain Diseases / metabolism
  • Brain Diseases / pathology*
  • Dystrophin-Associated Protein Complex / genetics
  • Dystrophin-Associated Protein Complex / metabolism*
  • Glycoproteins / genetics
  • Glycoproteins / metabolism*
  • Humans


  • Dystrophin-Associated Protein Complex
  • Glycoproteins