2012 Fiscal Year Final Research Report
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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| 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 |
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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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[Journal Article] Carnitinepalmitoyl transferase II polymorphism isassociated with multiple syndromes of acute with various infectious diseases.2011
Author(s)
Shinohara M, Saitoh M, Takanashi, JI,Yamanouchi H, Kubota M, Goto T, Kikuchi M,Shiihara T, Yamanaka G, Mizuguchi M.
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Journal Title
Brain Dev
Volume: 33
Pages: 512-516
DOI
Peer Reviewed
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