| Project/Area Number |
04454447
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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 |
Ophthalmology
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| Research Institution | Keio University |
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Principal Investigator |
OGUCHI Yoshihisa Keio Univ, Medicine, Professor, 医学部, 教授 (70051498)
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| Co-Investigator(Kenkyū-buntansha) |
IDEI Takeshi Keio Univ, Medicine, Instructor, 医学部, 助手 (90223130)
SAGA Masamichi Keio Univ, Medicine, Instructor, 医学部, 助手 (00245557)
SUZUKI Saburosuke Keio Univ, Medicine, Assist Professor, 医学部, 講師 (40162945)
KATSURA Hiroshi Keio Univ, Medicine, Assist Professor, 医学部, 講師 (40129391)
MASHIMA Yukihiko Keio Univ, Medicine, Assist Professor, 医学部, 講師 (40157186)
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| Project Period (FY) |
1992 – 1994
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| Project Status |
Completed (Fiscal Year 1994)
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| Budget Amount *help |
¥6,500,000 (Direct Cost: ¥6,500,000)
Fiscal Year 1994: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1993: ¥2,300,000 (Direct Cost: ¥2,300,000)
Fiscal Year 1992: ¥3,600,000 (Direct Cost: ¥3,600,000)
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| Keywords | Leber disease / Mitochondrial DNA / Heterplasmy / 11778 mutation / MRI / VEP / Idebenone / 3460変異 / 14484変異 / 遺伝子治療 / レーベル視神経症 / 点突然変異 / ヘテロプラスミー / 遺伝的異質 / SSCP / PCR |
|---|
| Research Abstract |
Japanese patients with Leber's hereditary optic neuropathy(LHON)were investigated as to the genotype of mtDNA mutations.The 11778 mutation were identified in 47 pedigrees, the 14484 mutation in 4 pedigrees, and the 3460 in 3 pedigrees. In Japan, the 11778 mutation was prevalent in LHON patients, which is different from the Caucasian patients. Molecular testing of mtDNA is effective for diagnosis of LHON.Heteroplasmy was found 5 of the 36 pedigrees with the 11778 mutation tested. We develped a new application of quantification of heteroplasmy by PCR-SSCP analysis and individuals wiht less than 60% of mutant mtDNA are probably at lesser risk for developing the disease. The clinical characteristics of the three genotype were similar to those of Caucasian patients. Patients with the 14484 mutation have a high frequency of visual recovery. Yhe results of flash VEP and MRI study revealed that pathogenesis of the optic nerve in the acute stage of LHON was different from that of optic neuritis. Concerning treatment of LHON,there is no effective therapy. However, one young parient recovered vision after treatment with this medicine. Idebenone is one of candidate medicines to be appled for the patients.
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