Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter

Mol Ther. 2005 Jun;11(6):889-98. doi: 10.1016/j.ymthe.2005.01.012.

Abstract

Glycogen storage disease type II (Pompe disease) causes death in infancy from cardiorespiratory failure due to acid alpha-glucosidase (GAA; acid maltase) deficiency. An AAV2 vector pseudotyped as AAV6 (AAV2/6 vector) transiently expressed high-level human GAA in GAA-knockout (GAA-KO) mice without reducing glycogen storage; however, in immunodeficient GAA-KO/SCID mice the AAV2/6 vector expressed high-level GAA and reduced the glycogen content of the injected muscle for 24 weeks. A CD4+/CD8+ lymphocytic infiltrate was observed in response to the AAV2/6 vector in immunocompetent GAA-KO mice. When a muscle-specific creatine kinase promoter was substituted for the CB promoter (AAV-MCKhGAApA), that AAV2/6 vector expressed high-level GAA and reduced glycogen content in immunocompetent GAA-KO mice. Muscle-restricted expression of hGAA provoked only a humoral (not cellular) immune response. Intravenous administration of a high number of particles of AAV-MCKhGAApA as AAV2/7 reduced the glycogen content of the heart and skeletal muscle and corrected individual myofibers in immunocompetent GAA-KO mice 24 weeks postinjection. In summary, persistent correction of muscle glycogen content was achieved with an AAV vector containing a muscle-specific promoter in GAA-KO mice, and this approach should be considered for muscle-targeted gene therapy in Pompe disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibodies / blood
  • Antibody Formation
  • Creatine Kinase / genetics*
  • Creatine Kinase, MM Form
  • DNA, Viral / analysis
  • Dependovirus / genetics*
  • Enhancer Elements, Genetic / genetics
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / genetics
  • Glycogen / analysis
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Injections, Intramuscular
  • Isoenzymes / genetics
  • Mice
  • Mice, Knockout
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / enzymology*
  • Myocardium / chemistry
  • Myocardium / enzymology
  • Promoter Regions, Genetic / genetics*
  • alpha-Glucosidases / analysis
  • alpha-Glucosidases / genetics*
  • alpha-Glucosidases / immunology

Substances

  • Antibodies
  • DNA, Viral
  • Isoenzymes
  • Glycogen
  • Creatine Kinase
  • Creatine Kinase, MM Form
  • alpha-Glucosidases