| Project/Area Number |
25670275
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Laboratory medicine
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| Research Institution | Kyushu University |
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Principal Investigator |
MATSUSHIMA Yuichi 九州大学, 医学(系)研究科(研究院), 助教 (20571342)
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| Co-Investigator(Renkei-kenkyūsha) |
GOTO Yu-ichi 国立精神・神経医療研究センター, 神経研究所疾病研究第二部, 部長 (20225668)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | ミトコンドリア病 / ミトコンドリア / 遺伝子診断 / ミトコンドリアDNA / β酸化 |
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| Outline of Final Research Achievements |
Mitochondrial disease can be due to pathogenic mutations in mitochondrial DNA (mtDNA) or nuclear DNA coding for mitochondrial components. Over 100 nuclear genes have been identified that cause mitochondrial disease. We selected 776 nuclear-encoded mitochondrial genes that include known genes causing mitochondrial disease and candidate genes expected to be involved in critical mitochondrial functions and we constructed custom exome capture kit against 776 genes. To identify the responsible mutations in nuclear DNA, targeted exome sequencing was performed against genomic DNAs from the patients who have no pathogenic mutations in mtDNA. We identified mutations considered to be possibly disease-causing based in reported responsible genes and candidate responsible genes. Among these patients, we performed detailed analysis of a boy with short chain enoyl coenzyme A hydratase (ECHS1) deficiency.
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