1991 Fiscal Year Final Research Report Summary
Molecular Genetics of Neuronal Disorders caused by amyloid deposition.
| Project/Area Number |
01480157
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pathological medical chemistry
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| Research Institution | Institute of Medical Science, The University of Tokyo (1991)
Kyushu University (1989-1990) |
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Principal Investigator |
SAKAKI Yoshiyuki Institute of Medical Science Laboratory of Molecular Medicine Professor, 医科学研究所, 教授 (10112327)
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| Co-Investigator(Kenkyū-buntansha) |
HOHJOH Hirohiko Institute of Medical Science Laboratory of Molecular Medicine Research Associat, 医科学研究所, 助手 (60238722)
HATTORI Masahira Institute of Medical Science Laboratory of Molecular Medicine Associate Professo, 医科学研究所, 助教授 (70175537)
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| Project Period (FY) |
1989 – 1991
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| Keywords | Alzheimer's disease / Neuron / Genetic Disease / Familial Amyloidosis / Transthyretin / beta amyloid / Aging |
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| Research Abstract |
We investigated the molecular basis of neurodegenerative disorders including familial amyloidotic polyneuropathy (FAP) and Alzheimer's disease (AD). Major conclusion we obtained are :
(1) We colned the entire region of the amyloid protein precursor gene and determined the nucleotide sequences of all the exons and their flanking regions.
(2) Screening of familial Alzheimer's disease (FAD) families in Japan led us to identified a FAD family carrying a mutation at position 717 of the APP gene.
(3) Haplotypes of FAP families in Japan were determined, which strongly suggested that Met-30 FAP is multiple origin.
(4) An E. coli production system of the variant transthyretin (TTR) was established, which allowed us to prepare any types of TTR was purified, crystalized and now subjected to x-ray crystallographic studay.
(5) Several new mutations related to hereditary Creutzfeldt-Jacob disease were found in the prion gene.
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