Rescue of skeletal muscles of gamma-sarcoglycan-deficient mice with adeno-associated virus-mediated gene transfer

Mol Ther. 2000 Feb;1(2):119-29. doi: 10.1006/mthe.1999.0019.

Abstract

In humans, a subset of cases of Limb-girdle muscular dystrophy (LGMD) arise from mutations in the genes encoding one of the sarcoglycan (alpha, beta, gamma, or delta) subunits of the dystrophin-glycoprotein complex. While adeno-associated virus (AAV) is a potential gene therapy vector for these dystrophies, it is unclear if AAV can be used if a diseased muscle is undergoing rapid degeneration and necrosis. The skeletal muscles of mice lacking gamma-sarcoglycan (gsg-/- mice) differ from the animal models that have been evaluated to date in that the severity of the skeletal muscle pathology is much greater and more representative of that of humans with muscular dystrophy. Following direct muscle injection of a recombinant AAV [in which human gamma-sarcoglycan expression is driven by a truncated muscle creatine kinase (MCK) promoter/enhancer], we observed significant numbers of muscle fibers expressing gamma-sarcoglycan and an overall improvement of the histologic pattern of dystrophy. However, these results could be achieved only if injections into the muscle were prior to the development of significant fibrosis in the muscle. The results presented in this report show promise for AAV gene therapy for LGMD, but underscore the need for intervention early in the time course of the disease process.

Publication types

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

MeSH terms

  • Age Factors
  • Animals
  • Animals, Newborn
  • Blotting, Western
  • Cell Line
  • Creatine Kinase / genetics
  • Cytoskeletal Proteins / deficiency*
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism*
  • DNA, Complementary / metabolism
  • Dependovirus / genetics*
  • Enhancer Elements, Genetic
  • Exons
  • Fibroblasts / metabolism
  • Fluorescent Antibody Technique
  • Gene Transfer Techniques*
  • Genetic Vectors
  • Humans
  • Introns
  • Membrane Glycoproteins / deficiency*
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism*
  • Mice
  • Mice, Mutant Strains
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / metabolism*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / therapy
  • Phenotype
  • Promoter Regions, Genetic
  • Recombination, Genetic
  • Sarcoglycans
  • Time Factors
  • Transduction, Genetic

Substances

  • Cytoskeletal Proteins
  • DNA, Complementary
  • Membrane Glycoproteins
  • Sarcoglycans
  • Creatine Kinase