Association of RANBP2 with cytokine storm and cellular energy
| Project/Area Number |
22591176
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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 | The University of Tokyo |
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Principal Investigator |
SAITOH Makiko 東京大学, 大学院・医学系研究科, 助教 (20225733)
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| Co-Investigator(Renkei-kenkyūsha) |
MIZUGUCHI Masashi 東京大学, 大学院・医学系研究科, 教授 (20209753)
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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 |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | サイトカインストーム / 遺伝子解析 / ミトコンドリア電子伝達系 / 急性脳症 / 急性壊死性脳症 / HLA / RANBP2 / GST融合蛋白 / COX11 |
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| Research Abstract |
Cytokine storm may play an important role in the pathomechanismof acute necrotizing encephalopathy (ANE) recognized in Japan. It is still unknownwhether ANE is caused by a single gene mutation such as RANBP2. We conducted geneticanalysis of COX genes, which are the potential binding proteins of RANBP2 and co-operateon mitochondrial electron transfer system. We could not detect the mutation in COX11 and COX17 in 24 ANE patients. We found a heterozygous amino acid substitution in exon 3 of COX10 in a case with ANE. Three patients had minor allele A of non-synonymousrs2231682 in COX15 (MAF <0.01). We suggested that these amino acid substitutions ofCOXs may relevant to mitochondrial dysfunction and predispose to the onset of ANE.
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Report
(4 results)
Research Products
(31 results)
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[Journal Article] Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes2011
Author(s)
Hoshino A, Saitoh M, Oka A, Okumura A, Kubota M, Saito Y, Takanashi J, Hirose S, Yamagata T, Yamanouchi H, Mizuguchi M
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Journal Title
Brain Dev
Volume: 34
Issue: 5
Pages: 337-343
DOI
Related Report
Peer Reviewed
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