Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy

Mol Ther. 2008 Aug;16(8):1366-71. doi: 10.1038/mt.2008.133. Epub 2008 Jun 17.

Abstract

Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the deficiency of acid alpha-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. An adeno-associated virus 2/8 (AAV2/8) vector containing the muscle creatine kinase (MCK) (CK1) reduced glycogen content by approximately 50% in the heart and quadriceps in GAA-knockout (GAA-KO) mice; furthermore, an AAV2/8 vector containing the hybrid alpha-myosin heavy chain enhancer-/MCK enhancer-promoter (MHCK7) cassette reduced glycogen content by >95% in heart and >75% in the diaphragm and quadriceps. Transduction with an AAV2/8 vector was higher in the quadriceps than in the gastrocnemius. An AAV2/9 vector containing the MHCK7 cassette corrected GAA deficiency in the distal hindlimb, and glycogen accumulations were substantially cleared by human GAA (hGAA) expression therein; however, the analogous AAV2/7 vector achieved much lower efficacy. Administration of the MHCK7-containing vectors significantly increased striated muscle function as assessed by increased Rotarod times at 18 weeks after injection, whereas the CK1-containing vector did not increase Rotarod performance. Importantly, type IIb myofibers in the extensor digitalis longus (EDL) were transduced, thereby correcting a myofiber type that is unresponsive to enzyme replacement therapy. In summary, AAV8 and AAV9-pseudotyped vectors containing the MHCK7 regulatory cassette achieved enhanced efficacy in Pompe disease mice.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Creatine Kinase, MM Form / genetics
  • Creatine Kinase, MM Form / metabolism
  • Dependovirus / genetics*
  • Enhancer Elements, Genetic / genetics
  • Female
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / therapy*
  • Hindlimb / metabolism
  • Hindlimb / pathology
  • Mice
  • Mice, Knockout
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Striated / enzymology
  • Muscle, Striated / metabolism*
  • Muscle, Striated / pathology
  • Myocardium / metabolism
  • Myosin Heavy Chains / genetics
  • Promoter Regions, Genetic / genetics
  • Quadriceps Muscle / metabolism
  • Quadriceps Muscle / pathology
  • Transduction, Genetic
  • alpha-Glucosidases / genetics
  • alpha-Glucosidases / metabolism

Substances

  • Glycogen
  • Creatine Kinase, MM Form
  • alpha-Glucosidases
  • Myosin Heavy Chains