Dystrophin restoration therapy improves both the reduced excitability and the force drop induced by lengthening contractions in dystrophic mdx skeletal muscle

Skelet Muscle. 2016 Jul 20:6:23. doi: 10.1186/s13395-016-0096-4. eCollection 2016.

Abstract

Background: The greater susceptibility to contraction-induced skeletal muscle injury (fragility) is an important dystrophic feature and tool for testing preclinic dystrophin-based therapies for Duchenne muscular dystrophy. However, how these therapies reduce the muscle fragility is not clear.

Methods: To address this question, we first determined the event(s) of the excitation-contraction cycle which is/are altered following lengthening (eccentric) contractions in the mdx muscle.

Results: We found that the immediate force drop following lengthening contractions, a widely used measure of muscle fragility, was associated with reduced muscle excitability. Moreover, the force drop can be mimicked by an experimental reduction in muscle excitation of uninjured muscle. Furthermore, the force drop was not related to major neuromuscular transmission failure, excitation-contraction uncoupling, and myofibrillar impairment. Secondly, and importantly, the re-expression of functional truncated dystrophin in the muscle of mdx mice using an exon skipping strategy partially prevented the reductions in both force drop and muscle excitability following lengthening contractions.

Conclusion: We demonstrated for the first time that (i) the increased susceptibility to contraction-induced muscle injury in mdx mice is mainly attributable to reduced muscle excitability; (ii) dystrophin-based therapy improves fragility of the dystrophic skeletal muscle by preventing reduction in muscle excitability.

MeSH terms

  • Action Potentials
  • Animals
  • Dependovirus / genetics
  • Disease Models, Animal
  • Dystrophin / genetics
  • Dystrophin / metabolism*
  • Excitation Contraction Coupling*
  • Genetic Predisposition to Disease
  • Genetic Therapy*
  • Genetic Vectors
  • Mice, Inbred mdx
  • Muscle Strength
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / physiopathology
  • Muscular Dystrophy, Duchenne / genetics
  • Muscular Dystrophy, Duchenne / metabolism
  • Muscular Dystrophy, Duchenne / physiopathology
  • Muscular Dystrophy, Duchenne / therapy*
  • Phenotype
  • RNA, Small Nuclear / genetics*
  • RNA, Small Nuclear / metabolism
  • Time Factors
  • Up-Regulation

Substances

  • Dystrophin
  • RNA, Small Nuclear
  • U7 small nuclear RNA
  • apo-dystrophin 1