2000 Fiscal Year Final Research Report Summary
Studies of the enzyme replacement therapy for Fabry disease
| Project/Area Number |
11672286
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
応用薬理学・医療系薬学
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| Research Institution | Tokyo Metropolitan Organization for Medical Research |
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Principal Investigator |
KASE Ryoichi Tokyo Metropolitan Organization for Medical Research, the Tokyo Metropolitan Institute of Medical Science, Researcher, 東京都臨床医学総合研究所, 研究員 (20150203)
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| Co-Investigator(Kenkyū-buntansha) |
SHIMMOTO Michie Tokyo Metropolitan Organization for Medical Research, the Tokyo Metropolitan Institute of Medical Science, Researcher, 東京都臨床医学総合研究所, 研究員 (20216237)
SAKURABA Hitoshi Tokyo Metropolitan Organization for Medical Research, the Tokyo Metropolitan Institute of Medical Science, Researcher, 東京都臨床医学総合研究所, 研究員 (60114493)
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| Project Period (FY) |
1999 – 2000
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| Keywords | Fabry disease / α-Galactosidase / Lysosome / Enzyme replacement |
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| Research Abstract |
The genetic defect of α-galactosidase encoded by a gene localized to the X-chromosomal region, Xq22, results in Fabry disease. This disease is characterized by the systemic intralysosomal accumulation of neutral sphingolipids, predominantly globotriaosylceramide (GbOse_3Cer), in cells of the heart, kidneys, and vascular endothelial system. A screening study revealed that atypical Fabry variants comprised 3% of unrelated male patients with left ventricular hypertrophy referred to a cardiology clinic in Japan. First, we constructed the clones of the methylotropic yeast Pichia pastoris. Recombinant α-galactosidase was secreted by the Pchia clones. The recombinant enzyme was purified to homogeneity using two column chromatography steps. Then, the glyco-chains of the recombinant α-galactosidase was trimmed by α-mannosidase for the effective up-take by fibroblasts derived from the patients with Fabry disease.
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Research Products
(10 results)
