| Project/Area Number |
63570374
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Neurology
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| Research Institution | National Center of Neurology and Psychiatry (NCNP) |
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Principal Investigator |
NONAKA Ikuya Same as above, Division of Ultrastructural Research Head, 神経研究所・微細構造研究部, 部長 (80040210)
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| Co-Investigator(Kenkyū-buntansha) |
KIKUCHI Aiko Same as above, Researcher, 神経センター神経研究所・微細構造研究部, 研究員 (70159010)
AIKAWA Hisashi Same as above, Section chief, 神経センター神経研究所・微細構造研究部, 室長 (30184013)
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| Project Period (FY) |
1988 – 1989
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| Project Status |
Completed (Fiscal Year 1989)
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| Budget Amount *help |
¥2,100,000 (Direct Cost: ¥2,100,000)
Fiscal Year 1989: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1988: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | Mitochondrial myopathies / Mitochondrial DNA / Chronic Progressive Ophthalmoplegia / Focal Complex IV Deficiency / Neuromuscular Diseases / ミトコンドリア脳筋症 / 組織培養 |
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| Research Abstract |
Histochemical, biochemical and molecular analyses are necessary to get a definite diagnosis of mitochondrial disorders. On examination of 211 patients with clinical diagnosis of mitochondrial diseases, 145 (68.7%) muscles were confirmed to have primary defect in mitochondria. Among them, the commonest defect was in the mitochondrial electron transport system, especially in complex IV (cytochrome c oxidase).
Mitochondrial DNA (mtDNA) abnormalities were seen in 27 of 40 patients with chronic progressive external ophthalmoplegia (CPEO), but none with other mitochondrial encephalomyopathies. The size and site of deleted mtDNA differed from patient to patient. on sequence analysis at the deleted sites, most of mtDNA showed similar repeated sequences (direct repeat) which might induce 'slipped misparing' resulting in mtDNA deletions. Although there was no close correlation between clinical severity and mtDNA abnormalities in their site and length of deletion, patients with a large number of fibers with focal cytochrome c oxidase deficiency tended to have high populations of deleted mtDNA in biopsied muscles.
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