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Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency.
Hum Gene Ther. 1998 Jul 20; 9(11):1609-16.HG

Abstract

Acid maltase deficiency (AMD) causes a lysosomal glycogenosis inherited as an autosomal recessive trait. The infantile type of AMD (Pompe disease) leads to early death due to severe dysfunction of cardiac and respiratory muscles and no effective therapy is available. Replication-defective adenovirus vectors offer a promising tool for in vivo gene delivery and gene therapy. We constructed a recombinant adenovirus containing the human acid maltase (AM) cDNA downstream of the CAG promoter, composed of modified chicken beta-actin promoter and CMV IE enhancer (AxCANAM). Japanese quail with AMD was used for this study as an animal model for human AMD. When cultured fibroblasts from AMD quail were infected with AxCANAM, AM activity in the cells increased in proportion to the multiplicity of infection (MOI). When AxCANAM (4.5 x 10(8) PFU) was injected into unilateral superficial pectoral muscle of AMD quail, PAS staining showed that glycogenosomes disappeared and stainability of acid phosphatase was reduced in the injected area as compared with the contralateral muscle of the same birds. Biochemically, AM activity increased and glycogen content decreased in the injected muscle. Western blot analysis showed that AMD quail muscle injected with AxCANAM expressed human AM protein processed to active forms. These results suggest that the human AM cDNA transferred by an adenovirus vector was sufficiently expressed, leading to a marked reduction of the glycogen accumulation in the skeletal muscle of AMD quail.

Authors+Show Affiliations

Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo 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

9694159

Citation

Tsujino, S, et al. "Adenovirus-mediated Transfer of Human Acid Maltase Gene Reduces Glycogen Accumulation in Skeletal Muscle of Japanese Quail With Acid Maltase Deficiency." Human Gene Therapy, vol. 9, no. 11, 1998, pp. 1609-16.
Tsujino S, Kinoshita N, Tashiro T, et al. Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency. Hum Gene Ther. 1998;9(11):1609-16.
Tsujino, S., Kinoshita, N., Tashiro, T., Ikeda, K., Ichihara, N., Kikuchi, H., Hagiwara, Y., Mizutani, M., Kikuchi, T., & Sakuragawa, N. (1998). Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency. Human Gene Therapy, 9(11), 1609-16.
Tsujino S, et al. Adenovirus-mediated Transfer of Human Acid Maltase Gene Reduces Glycogen Accumulation in Skeletal Muscle of Japanese Quail With Acid Maltase Deficiency. Hum Gene Ther. 1998 Jul 20;9(11):1609-16. PubMed PMID: 9694159.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency. AU - Tsujino,S, AU - Kinoshita,N, AU - Tashiro,T, AU - Ikeda,K, AU - Ichihara,N, AU - Kikuchi,H, AU - Hagiwara,Y, AU - Mizutani,M, AU - Kikuchi,T, AU - Sakuragawa,N, PY - 1998/8/7/pubmed PY - 1998/8/7/medline PY - 1998/8/7/entrez SP - 1609 EP - 16 JF - Human gene therapy JO - Hum. Gene Ther. VL - 9 IS - 11 N2 - Acid maltase deficiency (AMD) causes a lysosomal glycogenosis inherited as an autosomal recessive trait. The infantile type of AMD (Pompe disease) leads to early death due to severe dysfunction of cardiac and respiratory muscles and no effective therapy is available. Replication-defective adenovirus vectors offer a promising tool for in vivo gene delivery and gene therapy. We constructed a recombinant adenovirus containing the human acid maltase (AM) cDNA downstream of the CAG promoter, composed of modified chicken beta-actin promoter and CMV IE enhancer (AxCANAM). Japanese quail with AMD was used for this study as an animal model for human AMD. When cultured fibroblasts from AMD quail were infected with AxCANAM, AM activity in the cells increased in proportion to the multiplicity of infection (MOI). When AxCANAM (4.5 x 10(8) PFU) was injected into unilateral superficial pectoral muscle of AMD quail, PAS staining showed that glycogenosomes disappeared and stainability of acid phosphatase was reduced in the injected area as compared with the contralateral muscle of the same birds. Biochemically, AM activity increased and glycogen content decreased in the injected muscle. Western blot analysis showed that AMD quail muscle injected with AxCANAM expressed human AM protein processed to active forms. These results suggest that the human AM cDNA transferred by an adenovirus vector was sufficiently expressed, leading to a marked reduction of the glycogen accumulation in the skeletal muscle of AMD quail. SN - 1043-0342 UR - https://www.unboundmedicine.com/medline/citation/9694159/Adenovirus_mediated_transfer_of_human_acid_maltase_gene_reduces_glycogen_accumulation_in_skeletal_muscle_of_Japanese_quail_with_acid_maltase_deficiency_ L2 - https://www.liebertpub.com/doi/full/10.1089/hum.1998.9.11-1609?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -