title: Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro.
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.
authors.affiliation: Neuromuscular Research Group, Montreal Neurological Institute, McGill University, Quebec, Canada.
authors.forename: G
authors.initials: G
authors.lastname: Pari
authors.forename: M M
authors.initials: MM
authors.lastname: Crerar
authors.forename: J
authors.initials: J
authors.lastname: Nalbantoglu
authors.forename: E
authors.initials: E
authors.lastname: Shoubridge
authors.forename: A
authors.initials: A
authors.lastname: Jani
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: J M
authors.initials: JM
authors.lastname: Howell
authors.forename: G
authors.initials: G
authors.lastname: Karpati
mesh_terms: D000818:Animals; D018014:Gene Transfer Techniques; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D006005:Phosphorylases / Q000235:genetics*; D012756:Sheep
chemical_list: D006005:Phosphorylases