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Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice

  1. Author:
    Ohshima, T.
    Schiffmann, R.
    Murray, G. J.
    Kopp, J.
    Quirk, J. M.
    Stahl, S.
    Chan, C. C.
    Zerfas, P.
    Tao-Cheng, J. H.
    Ward, J. M.
    Brady, R. O.
    Kulkarni, A. B.

  2. Author Address

    Kulkarni AB Natl Inst Dent & Craniofacial Res, Funct Genomics Unit, NIH Bldg 30,Room 529,30 Convent Dr Bethesda, MD 20892 USA Natl Inst Dent & Craniofacial Res, Funct Genomics Unit, NIH Bethesda, MD 20892 USA NINDS, Dev & Metab Neurol Branch, NIH Bethesda, MD USA NIDDK, Kidney Dis Sect, NIH Bethesda, MD 20892 USA NEI, Immunol Lab, NIH Bethesda, MD 20892 USA NINDS, Electron Microscope Facil, NIH Bethesda, MD 20892 USA NCI, Vet & Tumor Pathol Sect, Off Lab Anim Sci, NIH Frederick, MD 21702 USA
    1. Year: 1999
  2. Journal: Proceedings of the National Academy of Sciences of the United States of America
    1. 96
    2. 11
    3. Pages: 6423-6427
  4. Type of Article: Article
  1. Abstract:

    Fabry disease is an X-linked metabolic disorder caused by a deficiency of cu-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with Lu-galactosyl moieties consisting predominantly of globotriaosylceramide (Gb3). In patients with this disorder, glycolipid deposition in endothelial cells leads to renal failure and cardiac and cerebrovascular disease. Recently, we generated alpha-Gal A gene knockout mouse lines and described the phenotype of 10-week-old mice. In the present study, we characterize the progression of the disease with aging and explore the effects of bone marrow transplantation (BMT) on the phenotype. Histopathological analysis of alpha-Gal A-/0 mice revealed subclinical lesions in the Kupffer cells in the liver and macrophages in the skin with no gross lesions in the endothelial cells. Gb3 accumulation and pathological lesions in the affected organs increased with age. Treatment with BMT from the wild-type mice resulted in the clearance of accumulated Gb3 in the liver, spleen, and heart with concomitant elevation of alpha-Gal A activity. These findings suggest that BMT may have a potential role in the management of patients with Fabry disease. [References: 17]

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