Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

Cell. 1997 Aug 22;90(4):717-27. doi: 10.1016/s0092-8674(00)80532-2.

Abstract

The absence of dystrophin at the muscle membrane leads to Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease that is inevitably fatal in early adulthood. In contrast, dystrophin-deficient mdx mice appear physically normal despite their underlying muscle pathology. We describe mice deficient for both dystrophin and the dystrophin-related protein utrophin. These mice show many signs typical of DMD in humans: they show severe progressive muscular dystrophy that results in premature death, they have ultrastructural neuromuscular and myotendinous junction abnormalities, and they aberrantly coexpress myosin heavy chain isoforms within a fiber. The data suggest that utrophin and dystrophin have complementing roles in normal functional or developmental pathways in muscle. Detailed study of these mice should provide novel insights into the pathogenesis of DMD and provide an improved model for rapid evaluation of gene therapy strategies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cytoskeletal Proteins / deficiency*
  • Disease Models, Animal
  • Dystrophin / deficiency*
  • Female
  • Male
  • Membrane Proteins / deficiency*
  • Mice
  • Mice, Inbred mdx
  • Muscle, Skeletal / ultrastructure
  • Muscular Dystrophy, Animal / physiopathology*
  • Myosin Heavy Chains / analysis
  • Neuromuscular Junction / ultrastructure
  • Receptors, Cholinergic / analysis
  • Tendons / ultrastructure
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Receptors, Cholinergic
  • Utrn protein, mouse
  • Utrophin
  • Myosin Heavy Chains