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Neurology 1999;53:1352
© 1999 American Academy of Neurology
Brief Communications

Myophosphorylase gene transfer in McArdle’s disease myoblasts in vitro

G. Pari, MD, M. M. Crerar, PhD, J. Nalbantoglu, PhD, E. Shoubridge, PhD, A. Jani, MD, S. Tsujino, MD, PhD, S. Shanske, PhD, S. DiMauro, MD, J. McC. Howell, PhD, DVSc and G. Karpati, MD

From the Neuromuscular Research Group (Drs. Pari, Nalbantoglu, Shoubridge, and Karpati), Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; Department of Biology (Dr. Crerar), York University, Toronto, Ontario, Canada; Department of Neurology (Dr. Jani), Wayne State University, Detroit, MI; H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Tsujino, Shanske, and DiMauro), Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY; and Division of Veterinary and Biomedical Sciences (Dr. Howell), Murdoch University, Murdoch, Australia.

Address correspondence and reprint requests to Dr. George Karpati, Neuromuscular Research Group, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada.

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.

Key words: McArdle’s disease—Glycogenosis type V—Muscle phosphorylase—Adenovirus—Gene transfer.




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