Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models

J Clin Invest. 1998 Aug 15;102(4):844-52. doi: 10.1172/JCI3705.

Abstract

Humans and mice with deficiency of the alpha2 subunit of the basement membrane protein laminin-2/merosin suffer from merosin-deficient congenital muscular dystrophy (MCMD). We have expressed a human laminin alpha2 chain transgene under the regulation of a muscle-specific creatine kinase promoter in mice with complete or partial deficiency of merosin. The transgene restores the synthesis and localization of merosin in skeletal muscle, and greatly improves muscle morphology and integrity and the health and longevity of the mice. However, the transgenic mice share with the nontransgenic dystrophic mice a progressive lameness of hind legs, suggestive of a nerve defect. These results indicate that the absence of merosin in tissues other than the muscle, such as nervous tissue, is a critical component of MCMD. Future gene therapies of human MCMD, and perhaps of other forms of muscular dystrophy, may require restoration of the defective gene product in multiple tissues.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Creatine Kinase / analysis
  • Creatine Kinase / genetics
  • Disease Models, Animal
  • Gene Expression
  • Gene Targeting
  • Genetic Therapy / methods*
  • Hindlimb / physiopathology
  • Humans
  • Laminin / biosynthesis
  • Laminin / deficiency*
  • Laminin / genetics
  • Longevity
  • Mice
  • Mice, Mutant Strains
  • Mice, Transgenic
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophy, Animal / congenital*
  • Muscular Dystrophy, Animal / genetics
  • Muscular Dystrophy, Animal / pathology
  • Muscular Dystrophy, Animal / therapy*
  • Transgenes

Substances

  • Laminin
  • Creatine Kinase