Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy

Cell. 1997 Aug 22;90(4):729-38. doi: 10.1016/s0092-8674(00)80533-4.

Abstract

Dystrophin is a cytoskeletal protein of muscle fibers; its loss in humans leads to Duchenne muscular dystrophy, an inevitably fatal wasting of skeletal and cardiac muscle. mdx mice also lack dystrophin, but are only mildly dystrophic. Utrophin, a homolog of dystrophin, is confined to the postsynaptic membrane at skeletal neuromuscular junctions and has been implicated in synaptic development. However, mice lacking utrophin show only subtle neuromuscular defects. Here, we asked whether the mild phenotypes of the two single mutants reflect compensation between the two proteins. Synaptic development was qualitatively normal in double mutants, but dystrophy was severe and closely resembled that seen in Duchenne. Thus, utrophin attenuates the effects of dystrophin deficiency, and the double mutant may provide a useful model for studies of pathogenesis and therapy.

Publication types

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

MeSH terms

  • Animals
  • Cardiomyopathies / complications
  • Cardiomyopathies / pathology
  • Cytoskeletal Proteins / deficiency*
  • Disease Models, Animal
  • Dystrophin / deficiency*
  • Female
  • Male
  • Membrane Proteins / deficiency*
  • Mice
  • Mice, Inbred mdx
  • Muscle Contraction
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiology
  • Muscular Dystrophy, Animal / complications
  • Muscular Dystrophy, Animal / pathology*
  • Myocardium / pathology*
  • Neuromuscular Junction / pathology
  • Regeneration
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Utrn protein, mouse
  • Utrophin