| Project/Area Number |
07670903
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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 |
Pediatrics
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| Research Institution | The Jikei University School of Medicine |
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Principal Investigator |
IDA Hiroyuki The Jikei University School of Medicine assi.prof., 小児科, 講師 (90167255)
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| Co-Investigator(Kenkyū-buntansha) |
ETO Yoshikatu The Jikei University School of Medicine prof., 小児科, 教授 (50056909)
HASEGAWA Yoriyasu The Jikei University School of Medicine senior investigator, 小児科, 助手 (60256435)
OHASHI Touya The Jikei University School of Medicine assi prof., 小児科, 講師 (60160595)
OHNO Noriya The Jikei University School of Medicine prof., 微生物第一, 教授 (60147288)
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| Project Period (FY) |
1995 – 1996
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| Project Status |
Completed (Fiscal Year 1996)
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| Budget Amount *help |
¥2,400,000 (Direct Cost: ¥2,400,000)
Fiscal Year 1996: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1995: ¥1,100,000 (Direct Cost: ¥1,100,000)
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| Keywords | Gaucher disease / transplantation / common mutation / L444P / 遺伝子変異分布 / 臨床表現型 / ゴ-シェ病 / ニーマンピック病 / 酵素補充療法 / 骨髄移植 / 胎児造血幹細胞 / Neurolipidosis / Phenotype / Genotype |
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| Research Abstract |
It is important to evaluate the genotype/phenotype correlation to establish the strategy of the gene therapy for neurodegenerative disorders. I studied the genotype/phenotype correlation of Japanese patients with Gaucher disease. Seven common mutations were screened, resuting in the absence of N370S and 84GG mutations among Japanese patients. In contrast these mutations accounted for approximately 80% of total mutated alleles among Jews. Patients with homozygous for N370S are asymtomatic. These data indicate that Japanese patients are more severe than Jewish patients. Homozygotes for the L444P mutation are tightly linked to type 3a in Sweden, however, phenotypic expressions of homozygotes for the L444P mutation in Japan are variable.
These data suggested that one should pay attention to the ethnicity to constitute the strategy of gene therapy for neurogegenerative disorders.
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