| Project/Area Number |
20390293
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 | The University of Tokyo |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
YAMANOUCHI Hideo 埼玉医科大学, 医学部, 教授 (10250226)
ITOH Masayuki 国立精神, 神経センター・神経研究所, 室長 (50243407)
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| Co-Investigator(Renkei-kenkyūsha) |
TAKASHIMA Sachio 国際医療福祉大学, 柳川療育センター, 教授 (70038743)
OKA Akira 杏林大学, 医学部, 教授 (00251273)
SAITOH Makiko 東京大学, 大学院・医学系研究科, 助教 (20225733)
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| Project Period (FY) |
2008 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥17,680,000 (Direct Cost: ¥13,600,000、Indirect Cost: ¥4,080,000)
Fiscal Year 2011: ¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2010: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2009: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2008: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
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| Keywords | 急性脳症 / 遺伝子解析 / 一塩基多型 / 急性壊死性脳症 / 痙攣重積型急性脳症 / アデノシン / サイトカイン / イオンチャネル / ミトコンドリア / 小児神経学 / カルニチンパルミトイルトランスフェラーゼII / アデノシン受容体 / ナトリウムチャネル / 痙攣重積 / ADORA2a / SNP / CPT II / カフェイン |
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| Research Abstract |
To elucidate the etiology of acute necrotizing encephalopathy (ANE) and acute encephalopathy with biphasic seizures and late reduced diffusion (AESD),genetic analyses were performed. We collected blood samples by a nationwide collaborative study, and examined mutations and polymorphisms of candidate genes. We found that polymorphism of a mitochondrial enzyme, CPT2, and an adenosine receptor, ADORA2A,predisposes children to AESD, and that certain HLA types are a risk factor for ANE. These findings led to identification of key molecules of the pathomechanism of these syndromes.We also found that Japanese sporadic ANE is unrelated to mutation of RANBP2, unlike familial ANE in Caucasians.
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