| Project/Area Number |
25461539
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Teikyo University (2014-2015)
The University of Tokyo (2013) |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
GOTO Yuichi 独立行政法人国立精神・神経医療研究センター, 疾病研究第二部, 部長 (20225668)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
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| Keywords | ミトコンドリア異常症 / 呼吸鎖複合体 / ミトコンドリアDNA / アセンブリーファクター / Blue Native電気泳動 / 遺伝 / 先天代謝異常 / ミトコンドリア病 / Blue Native 電気泳動 |
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| Outline of Final Research Achievements |
To make a precise and correct diagnosis of mitochondrial disorders, we performed Blue Native Polyacrylamide Gel Electrophoresis (BN-PAGE) using mitochondria derived from patients combined with analyses of DNA including mitochondrial DNA (mtDNA). We identified novel mtDNA mutations such as m.9155A>G mutation and nuclear DNA mutations such as POLG mutations in patients with mitochondrial respiratory chain disorders. As for common mtDNA mutations, such as the m.3243A>G mutation, we analyzed the impacts of the mutations on clinical features. We also investigated mitochondrial respiratory chain complex assembly process in the patient carrying FOXRED1 (FAD-dependent oxidoreductase domain-containing protein 1) mutations using BN-PAGE and our study revealed that FOXRED1 is a crucial component in the productive assembly of complex I. In conclusion, a combination of BN-PAGE and DNA analyses is useful and powerful to make prompt diagnoses of patients with mitochondrial disorders.
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