1992 Fiscal Year Final Research Report Summary
Tuberous sclerosis; genetic, cellural and molecular investigation.
| Project/Area Number |
03454265
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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 |
Pediatrics
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| Research Institution | Tottori University |
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Principal Investigator |
TAKESHITA Kenzo Tottori Univ Fac Med. Professor, 医学部, 教授 (90037375)
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| Co-Investigator(Kenkyū-buntansha) |
INAGAKI Masumi Tottori Univ Fac Med. Assistant, 医学部, 助手 (70203198)
KOEDA Tatsuya Tottori Univ Fac Med. Assistant, 医学部, 助手 (70225390)
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| Project Period (FY) |
1991 – 1992
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| Keywords | tuberous sclerosis / GFAP / mitogen |
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| Research Abstract |
We investigated tuberous sclerosis(TS) epidemiologically, clinically and pathophysiologically.
The prevalence among the general population of the San-in district in 1979 was estimated to be 3.2 x 10^<-5>. The frequency of the sporadic case in live-births was 3.2 x 10^<-5>. The mutation rate was directly estimated to be 1.6 x 10^<-5> per gene per generation.
Sister chromatid exchange, chromosome aberration and lymphocyte proliferative kinetics in MNNG treated lymphocytes did not show the high cancer propensity. Skin fibroblasts from TS patients also showed normal reaction for growth characteristics and sensitivities to DNA alkylating agents.
The cells cultured from facial angiofibromas of TS patients showed apparently abnormal pattern morphologically. The cells were examined immunocytochemically for expression of selected cytoskeletal and non-structural proteins and were compared with normal skin fibroblasts and normal glial cells. In similarity to nromal glia, the angiofibroma stroma cells expressed glial fibrillary acidic protein (GFAP) and produced fibronectin. It was established that GFAP and vimentin were co-localized in intermediate filaments of the angiofibroma cells.
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Research Products
(4 results)
