How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse

Hum Mol Genet. 2015 Aug 1;24(15):4225-37. doi: 10.1093/hmg/ddv155. Epub 2015 May 1.

Abstract

Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to induce clinically relevant changes in muscle function is poorly understood. In order to robustly evaluate functional improvement, we used in situ protocols in the mdx mouse to measure muscle strength and resistance to eccentric contraction-induced damage. Here, we modelled the treatment of muscle with pre-existing dystrophic pathology using antisense oligonucleotides conjugated to a cell-penetrating peptide. We reveal that 15% homogeneous dystrophin expression is sufficient to protect against eccentric contraction-induced injury. In addition, we demonstrate a >40% increase in specific isometric force following repeated administrations. Strikingly, we show that changes in muscle strength are proportional to dystrophin expression levels. These data define the dystrophin restoration levels required to slow down or prevent disease progression and improve overall muscle function once a dystrophic environment has been established in the mdx mouse model.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell-Penetrating Peptides / administration & dosage
  • Cell-Penetrating Peptides / genetics*
  • Disease Models, Animal
  • Dystrophin / biosynthesis*
  • Dystrophin / genetics
  • Gene Expression Regulation / drug effects
  • Genetic Therapy
  • Humans
  • Mice
  • Mice, Inbred mdx
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Animal / genetics*
  • Muscular Dystrophy, Animal / pathology
  • Muscular Dystrophy, Animal / therapy
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology
  • Muscular Dystrophy, Duchenne / therapy
  • Oligonucleotides, Antisense / administration & dosage
  • Oligonucleotides, Antisense / genetics*

Substances

  • Cell-Penetrating Peptides
  • Dystrophin
  • Oligonucleotides, Antisense