2009 Fiscal Year Final Research Report
A novel cell-based functional diagnosis for the patients with mitochondrial disorders
| Project/Area Number |
20790760
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | National Center of Neurology and Psychiatry |
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Principal Investigator |
HATAKEYAMA Hideyuki National Center of Neurology and Psychiatry, 神経研究所疾病研究第二部, 流動研究員 (70466225)
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| Project Period (FY) |
2008 – 2009
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| Keywords | ミトコンドリア病 / 患者由来培養細胞 / 生化学診断 |
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| Research Abstract |
I established the methodology to characterize the phenotypic differences in the patients with mitochondrial diseases by using a systematic molecular and protein analysis in mitochondrial electron transport components and a comprehensive functional analysis in mitochondria and cells. This methodology would be available not only for investigating the actual molecular pathogenesis in various mitochondrial diseases caused by newly found mutations, but also for applications in evidence-based therapeutics according to the pathogenic features and the clinical symptoms of the patients.
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