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Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice

  1. Author:
    Sun, M. S.
    Pan, C. J.
    Shieh, J. J.
    Ghosh, A.
    Chen, L. Y.
    Mansfield, B. C.
    Ward, J. M.
    Byrne, B. J.
    Chou, J. Y.

  2. Author Address

    NICHHD, Sect Cellular Differentiat, Heritable Disorders Branch, NIH, Bldg 10,Room 9S241,9000 Rockville Pike, Bethesda, MD 20892 USA NICHHD, Sect Cellular Differentiat, Heritable Disorders Branch, NIH, Bethesda, MD 20892 USA NCI, Vet & Tumor Pathol Sect, Off Lab Anim Sci, Frederick, MD 21702 USA Univ Florida, Powell Gene Therapy Ctr, Gainesville, FL 32610 USA Univ Florida, Dept Pediat & Mol Genet & Microbiol, Gainesville, FL 32610 USA Chou JY NICHHD, Sect Cellular Differentiat, Heritable Disorders Branch, NIH, Bldg 10,Room 9S241,9000 Rockville Pike, Bethesda, MD 20892 USA
    1. Year: 2002
  2. Journal: Human Molecular Genetics
    1. 11
    2. 18
    3. Pages: 2155-2164
  4. Type of Article: Article
  1. Abstract:

    Deficiency of glucose-6-phosphatase (G6Pase), a key enzyme in glucose homeostasis, causes glycogen storage disease type Ia (GSD-Ia), an autosomal recessive disorder characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly, hyperlipidemia, hyperuricemia, and lactic acidemia. G6Pase is an endoplasmic reticulum-associated transmembrane protein expressed primarily in the liver and the kidney. Therefore, enzyme replacement therapy is not feasible using current strategies, but somatic gene therapy, targeting G6Pase to the liver and the kidney, is an attractive possibility. Previously, we reported the development of a mouse model of G6Pase deficiency that closely mimics human GSD-Ia. Using neonatal GSD-Ia mice, we now demonstrate that a combined adeno virus and adeno-associated virus vector-mediated gene transfer leads to sustained G6Pase expression in both the liver and the kidney and corrects the murine GSD-Ia disease for at least 12 months. Our results suggest that human GSD-Ia would be treatable by gene therapy.

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