1990 Fiscal Year Final Research Report Summary
Etiology and Pathogenesis of Tuberous Sclerosis and Neurofibromatosis
| Project/Area Number |
62440044
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| Research Category |
Grant-in-Aid for General Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | University of Tokyo |
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Principal Investigator |
ISHIBASHI Yasumasa Tokyo Univ. Medicine, Prof., 医学部・附属病院, 教授 (10010191)
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| Co-Investigator(Kenkyū-buntansha) |
WATANABE Ryoji Tokyo Univ. Medicine, Lecturer, 医学部・附属病院・分院, 構師 (80158675)
TSUCHIDA Tetsuya Tokyo Univ. Medicine, Lecturer, 医学部・附属病院, 講師 (70126126)
OTSUKA Fujio Tokyo Univ. Medicine, A. Prof., 医学部・附属病院・分院, 助教授 (10092157)
UMEDA Takashi Teikyo Univ. Medicine, Prof., 医学部・附属病院, 教授
ONODERA Kazukiyo Tokyo Univ. Agriculture, Prof., 農学部, 教授 (90012773)
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| Project Period (FY) |
1987 – 1990
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| Keywords | neurocutaneous syndrome / Pringle's disease / tuberous sclerosis / Recklinghausen's disease / neurofibromatosis |
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| Research Abstract |
This reseach project aims to clarify the etiology and pathogenesis of tuberous sclerosis and neurofibromatosis, two major diseases of neurocutaneous syndrome.
Cultured cells derived from angiofibroma of tuberous sclerosis have been demonstrated to divide in abnormal fashion. This abnormality further revealed to result from the genetic control deterioration in intermediate filament formation. The abnormal gene has been found to locate on chromosome 6. These cellular and molecular abnormalities may well explain the phacomatotic nature of tuberous sclerosis and help to know its etiology.
Neurofibromas and neurofibrosarcomas were analyzed in terms of ganglioside composition in patients with neurofibromatosis. The ganglioside composition has been demonstrated to be characteristic for the respective tumors, which enables to distinguish one from the other. Constitutive cells in neurofibromas are examined and clarified. Clinical manifestations are also characterized in neurofibromatosis patients.
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