Human dystrophin expression corrects the myopathic phenotype in transgenic mdx mice

Hum Mol Genet. 1992 Apr;1(1):35-40. doi: 10.1093/hmg/1.1.35.

Abstract

Duchenne and the less severe Becker form of muscular dystrophy (DMD,BMD) result from genetic deficiency in the level and/or activity of the protein dystrophin. The recent availability of cDNA based minigenes encoding recombinant dystrophin polypeptides has raised the possibility of somatic gene transfer as a therapeutic approach to treat dystrophin deficiency. In this respect, the mdx mouse provides a useful model of DMD exhibiting features characteristic of both the early myopathic and later fibrotic phases of the human disease. Using a mutated human cDNA, compatible in size with virus-based somatic gene transfer vectors, the pathophysiological consequences of restoring dystrophin expression have been examined in transgenic mdx mice. Transgene expression was correlated with a marked reduction of the skeletal myofibre necrosis and regeneration which is a major feature of the dystrophin-deficient phenotype in young mdx mice. The cDNA construct which is based on a very mild BMD phenotype thus encodes a highly functional dystrophin molecule whose reduced size renders it an attractive candidate for development as a therapeutic gene transfer reagent.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Southern
  • Blotting, Western
  • Cloning, Molecular
  • Creatine Kinase / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Dystrophin / analysis
  • Dystrophin / genetics*
  • Dystrophin / physiology
  • Genetic Therapy
  • Humans
  • Male
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Muscles / metabolism
  • Muscles / pathology
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / physiopathology
  • Muscular Dystrophy, Animal / therapy*
  • Phenotype
  • Plasmids
  • Polymerase Chain Reaction / methods

Substances

  • Dystrophin
  • DNA
  • Creatine Kinase