1990 Fiscal Year Final Research Report Summary
Pathogenesis of Multiple Sulfatase Deficiency
| Project/Area Number |
01570550
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Tokyo Jikei University School of Medicine |
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Principal Investigator |
ETO Yoshikatsu Jikei Univ. Prof. assoc., 医学部, 助教授 (10057010)
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| Co-Investigator(Kenkyū-buntansha) |
五味渕 一三 東京慈恵会医科大学, 小児科学, 助手 (50205621)
IDA Hiroyuki Jikei Univ. asst., 小児科学, 助手 (90167255)
TOKORO Toshiharu Jikei Univ. Prof. asst., 小児科学, 講師 (40112841)
TOYODA Shigeru Jikei Univ. Prof. asst., 小児科学, 講師 (90110931)
衛藤 義勝 東京慈恵会医科大学, 小児科学, 助教授 (50056909)
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| Project Period (FY) |
1989 – 1990
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| Keywords | MLD / multiple sulfatase deficiency / 遺伝子解析 |
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| Research Abstract |
We study pathogenesis of multiple sulfatase deficiency (MSD) in term of biochemical and molecular approaches.
1) Biochemical approach ; purification of arylsulfatase A and B try to identify c-DNA cloaning.
2) Molecular analysis of arylsulfatase A in metachromatic leukodystrophy. MLD are typical type of metachromatic leukodystrophy. So Prior to study MSD, it essentially necessary to identify a mutation in MLD. We found heterallilic mutation of arylsulfatase A gene in exon 2.
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