Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice

Hum Gene Ther. 2012 Dec;23(12):1269-79. doi: 10.1089/hum.2012.056. Epub 2012 Sep 24.

Abstract

Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy. Soluble activin receptor IIB (sActRIIB-Fc) inhibits signaling of myostatin and homologous molecules and increases muscle mass and function of wild-type and mdx mice. We hypothesized that combined treatment with AAV-U7 and sActRIIB-Fc may synergistically improve mdx muscle function. Bioactivity of sActRIIB-Fc on skeletal muscle was first demonstrated in wild-type mice. In mdx mice we show that AAV-U7-mediated dystrophin restoration improved specific muscle force and resistance to eccentric contractions when applied alone. Treatment of mdx mice with sActRIIB-Fc increased body weight, muscle mass and myofiber size, but had little effect on muscle function. Combined treatment stimulated muscle growth comparable to the effect of sActRIIB-Fc alone and dystrophin rescue was similar to AAV-U7 alone. Moreover, combined treatment improved maximal tetanic force and the resistance to eccentric contraction to similar extent as AAV-U7 alone. In conclusion, combination of dystrophin exon skipping with sActRIIB-Fc brings together benefits of each treatment; however, we failed to evidence a clear synergistic effect on mdx muscle function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Activin Receptors, Type II / genetics
  • Activin Receptors, Type II / metabolism*
  • Animals
  • Body Weight
  • Dependovirus / genetics*
  • Dystrophin / genetics*
  • Dystrophin / metabolism
  • Exons
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Genetic Vectors / pharmacology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Muscle Contraction / genetics
  • Muscle, Skeletal / growth & development
  • Muscle, Skeletal / physiopathology
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / physiopathology
  • Muscular Dystrophy, Animal / therapy*

Substances

  • Dystrophin
  • Activin Receptors, Type II
  • activin receptor type II-B