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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.MT

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.

Authors+Show Affiliations

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15922959

Citation

Sun, Baodong, et al. "Correction of Glycogen Storage Disease Type II By an Adeno-associated Virus Vector Containing a Muscle-specific Promoter." Molecular Therapy : the Journal of the American Society of Gene Therapy, vol. 11, no. 6, 2005, pp. 889-98.
Sun B, Zhang H, Franco LM, et al. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther. 2005;11(6):889-98.
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. Molecular Therapy : the Journal of the American Society of Gene Therapy, 11(6), 889-98.
Sun B, et al. Correction of Glycogen Storage Disease Type II By an Adeno-associated Virus Vector Containing a Muscle-specific Promoter. Mol Ther. 2005;11(6):889-98. PubMed PMID: 15922959.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. AU - Sun,Baodong, AU - Zhang,Haoyue, AU - Franco,Luis M, AU - Brown,Talmage, AU - Bird,Andrew, AU - Schneider,Ayn, AU - Koeberl,Dwight D, PY - 2004/05/07/received PY - 2005/01/11/revised PY - 2005/01/11/accepted PY - 2005/6/1/pubmed PY - 2005/10/7/medline PY - 2005/6/1/entrez SP - 889 EP - 98 JF - Molecular therapy : the journal of the American Society of Gene Therapy JO - Mol. Ther. VL - 11 IS - 6 N2 - 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. SN - 1525-0016 UR - https://www.unboundmedicine.com/medline/citation/15922959/Correction_of_glycogen_storage_disease_type_II_by_an_adeno_associated_virus_vector_containing_a_muscle_specific_promoter_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1525-0016(05)00022-5 DB - PRIME DP - Unbound Medicine ER -