Skip to main content
release_alert
Welcome to the new Scholars 3.0! Read about new features and let us know what you think.
cancel
Journal cover image

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

Publication ,  Journal Article
Sun, B; Zhang, H; Franco, LM; Brown, T; Bird, A; Schneider, A; Koeberl, DD
Published in: Mol Ther
June 2005

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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Mol Ther

DOI

ISSN

1525-0016

Publication Date

June 2005

Volume

11

Issue

6

Start / End Page

889 / 898

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Promoter Regions, Genetic
  • Myocardium
  • Muscle, Skeletal
  • Mice, Knockout
  • Mice
  • Isoenzymes
  • Injections, Intramuscular
  • Humans
  • Glycogen Storage Disease Type II
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Sun, B., Zhang, H., Franco, L. M., Brown, T., Bird, A., Schneider, A., & Koeberl, D. D. (2005). Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther, 11(6), 889–898. https://doi.org/10.1016/j.ymthe.2005.01.012
Sun, Baodong, Haoyue Zhang, Luis M. Franco, Talmage Brown, Andrew Bird, Ayn Schneider, and Dwight D. Koeberl. “Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.Mol Ther 11, no. 6 (June 2005): 889–98. https://doi.org/10.1016/j.ymthe.2005.01.012.
Sun B, Zhang H, Franco LM, Brown T, Bird A, Schneider A, et al. 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.
Sun, Baodong, et al. “Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter.Mol Ther, vol. 11, no. 6, June 2005, pp. 889–98. Pubmed, doi:10.1016/j.ymthe.2005.01.012.
Sun B, Zhang H, Franco LM, Brown T, Bird A, Schneider A, Koeberl DD. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther. 2005 Jun;11(6):889–898.
Journal cover image

Published In

Mol Ther

DOI

ISSN

1525-0016

Publication Date

June 2005

Volume

11

Issue

6

Start / End Page

889 / 898

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Promoter Regions, Genetic
  • Myocardium
  • Muscle, Skeletal
  • Mice, Knockout
  • Mice
  • Isoenzymes
  • Injections, Intramuscular
  • Humans
  • Glycogen Storage Disease Type II