Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure

Hum Mol Genet. 2000 May 22;9(9):1357-67. doi: 10.1093/hmg/9.9.1357.

Abstract

The X-linked muscle wasting disease Duchenne muscular dystrophy is caused by the lack of dystrophin in muscle. Protein structure predictions, patient mutations, in vitro binding studies and transgenic and knockout mice suggest that dystrophin plays a mechanical role in skeletal muscle, linking the subsarcolemmal cytoskeleton with the extracellular matrix through its direct interaction with the dystrophin-associated protein complex (DAPC). Although a signaling role for dystrophin has been postulated, definitive data have been lacking. To identify potential non-mechanical roles of dystrophin, we tested the ability of various truncated dystrophin transgenes to prevent any of the skeletal muscle abnormalities associated with the double knockout mouse deficient for both dystrophin and the dystrophin-related protein utrophin. We show that restoration of the DAPC with Dp71 does not prevent the structural abnormalities of the post-synaptic membrane or the abnormal oxidative properties of utrophin/dystrophin-deficient muscle. In marked contrast, a dystrophin protein lacking the cysteine-rich domain, which is unable to prevent dystrophy in the mdx mouse, is able to ameliorate these abnormalities in utrophin/dystrophin-deficient mice. These experiments provide the first direct evidence that in addition to a mechanical role and relocalization of the DAPC, dystrophin and utrophin are able to alter both structural and biochemical properties of skeletal muscle. In addition, these mice provide unique insights into skeletal muscle fiber type composition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Bungarotoxins / metabolism
  • Cell Membrane / metabolism*
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / metabolism*
  • Cytoskeletal Proteins / physiology*
  • Dystrophin / genetics
  • Dystrophin / metabolism*
  • Dystrophin / physiology*
  • Genotype
  • Immunohistochemistry
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Membrane Proteins / physiology*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Models, Biological
  • Muscle, Skeletal / abnormalities
  • Muscle, Skeletal / metabolism
  • NADH Tetrazolium Reductase / metabolism
  • Neuromuscular Junction / metabolism
  • Signal Transduction
  • Synapses / metabolism*
  • Transgenes
  • Utrophin

Substances

  • Bungarotoxins
  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Utrn protein, mouse
  • Utrophin
  • NADH Tetrazolium Reductase