Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro

Neurology. 1999 Oct 12;53(6):1352-4. doi: 10.1212/wnl.53.6.1352.

Abstract

McArdle's disease is due to a genetic deficiency of glycogen phosphorylase and results in a lack of glucose mobilization from glycogen during anaerobic exercise. A genetic defect in Merino sheep produces a similar picture. We constructed a first-generation adenoviral recombinant containing the full-length human phosphorylase cDNA under the control of the Rous sarcoma virus promoter. Primary myoblast cultures from phosphorylase-deficient human and sheep muscle were efficiently transduced with this vector, resulting in restoration of the phosphorylase activity. A similar correction of the genetic defect in muscles of McArdle's patients in vivo appears feasible, preferably with the use of an adeno-associated viral vector.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Gene Transfer Techniques*
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Immunoblotting
  • Phosphorylases / genetics*
  • Sheep

Substances

  • Phosphorylases