Improvement in survival and muscle function in an mdx/utrn(-/-) double mutant mouse using a human retinal dystrophin transgene

Neuromuscul Disord. 2006 Mar;16(3):192-203. doi: 10.1016/j.nmd.2005.12.007. Epub 2006 Feb 17.

Abstract

Duchenne muscular dystrophy is a progressive muscle disease characterized by increasing muscle weakness and death by the third decade. mdx mice exhibit the underlying muscle disease but appear physically normal with ordinary lifespans, possibly due to compensatory expression of utrophin. In contrast, double mutant mice (mdx/utrn(-/-)), deficient for both dystrophin and utrophin die by approximately 3 months and suffer from severe muscle weakness, growth retardation, and severe spinal curvature. The capacity of human retinal dystrophin (Dp260) to compensate for the missing 427 kDa muscle dystrophin was tested in mdx/utrn(-/-) mice. Functional outcomes were assessed by histology, EMG, MRI, mobility, weight and longevity. MCK-driven transgenic expression of Dp260 in mdx/utrn(-/-) mice converts their disease course from a severe, lethal muscular dystrophy to a viable, mild myopathic phenotype. This finding is relevant to the design of exon-skipping therapeutic strategies since Dp260 lacks dystrophin exons 1-29.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Animals
  • Blotting, Western / methods
  • Dystrophin / deficiency
  • Dystrophin / genetics*
  • Electromyography / methods
  • Gene Expression / physiology
  • Genetic Therapy
  • Humans
  • Immunohistochemistry / methods
  • Magnetic Resonance Imaging / methods
  • Mice
  • Mice, Inbred mdx
  • Mice, Transgenic
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophy, Animal / therapy*
  • Necrosis
  • Tomography, X-Ray Computed / methods
  • Transgenes*
  • Utrophin / genetics

Substances

  • Dystrophin
  • Utrophin