| Project/Area Number |
22591131
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Hiroshima University |
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Principal Investigator |
TAJIMA Go 広島大学, 大学院・医歯薬保健学研究院, 助教 (00432716)
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| Research Collaborator |
OKADA Satoshi 広島大学, 病院(医), 病院助教 (80457241)
TSUMURA Miyuki 広島大学, 大学院・医歯薬保健学研究院, 研究員 (80646274)
KAGAWA Reiko 広島大学, 大学院・医歯薬保健学研究院, 大学院生
UTSUNOMIYA Akari 広島大学, 大学院・医歯薬保健学研究院, 大学院生
MIZOGUCHI Yoko 広島大学, 大学院・医歯薬保健学研究院, 大学院生
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| Project Period (FY) |
2010 – 2012
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| Project Status |
Completed (Fiscal Year 2012)
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| Budget Amount *help |
¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Fiscal Year 2012: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Keywords | 小児代謝・栄養学 / メープルシロップ尿症 / 分枝鎖α-ケト酸脱水素酵素複合体 / 分枝鎖α-ケト酸脱水素酵素キナーゼ(BCKDK) / 常染色体優性遺伝 / ロイシン / 分枝鎖αケト酸脱水素酵素 / BCKDK / 分枝鎖αケト酸脱水素酵素複合体 / 分枝鎖アミノトランスフェラーゼ |
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| Research Abstract |
We performed genetic analysis of two siblings showing persistent hyperleucinemia since newborn period in spite of normal levels of branched-chain α-ketoacid dehydrogenase (BCKD) activity, and detected a heterozygous missense basal substitution in BCKD kinase (BCKDK) gene that derived from their father. As BCKDK inactivates BCKD complex by phosphorylation of E1αsubunit, this family suggests a novel autosomal-dominant subtype of maple syrup urine disease caused by a gain-of-function mutation of BCKDK.
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