Micro-dystrophin and follistatin co-delivery restores muscle function in aged DMD model

Hum Mol Genet. 2013 Dec 15;22(24):4929-37. doi: 10.1093/hmg/ddt342. Epub 2013 Jul 17.

Abstract

Pharmacologic strategies have provided modest improvement in the devastating muscle-wasting disease, Duchenne muscular dystrophy (DMD). Pre-clinical gene therapy studies have shown promise in the mdx mouse model; however, studies conducted after disease onset fall short of fully correcting muscle strength or protecting against contraction-induced injury. Here we examine the treatment effect on muscle physiology in aged dystrophic mice with significant disease pathology by combining two promising therapies: micro-dystrophin gene replacement and muscle enhancement with follistatin, a potent myostatin inhibitor. Individual treatments with micro-dystrophin and follistatin demonstrated marked improvement in mdx mice but were insufficient to fully restore muscle strength and response to injury to wild-type levels. Strikingly, when combined, micro-dystrophin/follistatin treatment restored force generation and conferred resistance to contraction-induced injury in aged mdx mice. Pre-clinical studies with miniature dystrophins have failed to demonstrate full correction of the physiological defects seen in mdx mice. Importantly, the addition of a muscle enhancement strategy with delivery of follistatin in combination with micro-dystrophin gene therapy completely restored resistance to eccentric contraction-induced injury and improved force. Eccentric contraction-induced injury is a pre-clinical parameter relevant to the exercise induced injury that occurs in DMD patients, and herein, we demonstrate compelling evidence for the therapeutic potential of micro-dystrophin/follistatin combinatorial therapy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Dependovirus / genetics
  • Disease Models, Animal
  • Dystrophin / genetics*
  • Dystrophin / metabolism
  • Follistatin / genetics*
  • Follistatin / metabolism
  • Gene Expression
  • Gene Transfer Techniques
  • Genetic Therapy
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / genetics
  • Mice
  • Mice, Inbred mdx
  • Muscle Contraction / genetics
  • Muscle Strength / genetics
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Animal
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / metabolism*
  • Muscular Dystrophy, Duchenne / therapy

Substances

  • Dystrophin
  • Follistatin