Somatic reversion/suppression of the mouse mdx phenotype in vivo

J Neurol Sci. 1990 Oct;99(1):9-25. doi: 10.1016/0022-510x(90)90195-s.

Abstract

The mdx mouse has a myopathy caused by dystrophin deficiency, and is therefore biochemically and genetically homologous to human Duchenne muscular dystrophy. While mdx mouse muscle shows no dystrophin by immunoblotting, a very small percentage of myofibers appear clearly dystrophin-positive by immunofluorescence microscopy. We have characterized these rare positive-staining fibers, and conclude that they are indeed expressing dystrophin despite a nonsense mutation within the dystrophin gene. Thus, the dystrophin-positive fibers probably represent somatic reversion or suppression of the mdx mutation. Cardiac muscle and skeletal muscle from mdx mice showed dramatically different patterns of dystrophin-positive cells. However, this difference is expected given the apparent clonal nature of the reversion/suppression events, the inability of cardiac muscle to regenerate, and other differences in the developmental programs of myofibers and cardiocytes. The prevalence of dystrophin-positive cells in mdx cardiac muscle was determined to be approximately 2 x 10(-5). The observed prevalence of dystrophin-positive cardiocytes in the mdx mouse is a possible estimate of the somatic reversion rate of the mdx mutation in vivo.

Publication types

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

MeSH terms

  • Animals
  • Dystrophin / analysis*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Muscles / chemistry
  • Muscles / cytology*
  • Muscular Dystrophy, Animal / metabolism
  • Muscular Dystrophy, Animal / pathology*
  • Myocardium / cytology

Substances

  • Dystrophin