2013 Fiscal Year Final Research Report
Functional analysis of RNF213 gene identified by genome-wide association study
| Project/Area Number |
23390267
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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 | Tohoku University |
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Principal Investigator |
KURE Shigeo 東北大学, 医学(系)研究科(研究院), 教授 (10205221)
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| Co-Investigator(Kenkyū-buntansha) |
TOMINGA Teiji 東北大学, 大学院・医学系研究科, 教授 (00217548)
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| Project Period (FY) |
2011-04-01 – 2014-03-31
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| Keywords | 小児神経学 / モヤモヤ病 / 疾患感受性遺伝子 |
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| Research Abstract |
Moyamoya disease (MMD) manifests progressive bilateral internal carotid artery stenosis and abnormal collateral vessels. A genome-wide association study was performed, which showed a strong association of RNF213 locus in chromosome 17q25-ter with MMD risk. Mutational analysis of RNF213 revealed a founder mutation in 73% of non-familial MMD cases and 1.4% of controls; carriers of this mutation have increased risk of MMD. We developed a genetic testing method for this founder mutation.To understand the function of RNF213 gene, we generated a knockout mice by gene targeting. Homozygous mice were born and grew normally and no abnormality was found in cerebral vascular development. The we ligated the internal carotid artery and observed reactive hypertrophy of vascular wall. The homozygous mice lacked the reactive hyperplasia of intima cells, which was constantly observed in wild-type mice, suggesting that Rnf213 gene plays a role in proliferation of intima cells.
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Research Products
(17 results)
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[Journal Article] Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease2012
Author(s)
Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, TsurusakiY, Doi H, Sakai H, Saitsu H, Shimojima K, Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, Matsumoto N
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Journal Title
Neurology
Volume: 78(11)
Pages: 803-10
DOI
Peer Reviewed
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[Presentation] Identification of a susceptibility gene for Moyamoya disease in Japanese patients with Moyamoya disease and its clinical significance2012
Author(s)
Kure S, Kamada F , Aoki Y , Abe Y , Kikuchi A, Komatsuzaki S, Kanno J, Matsubara Y , T ouho H, Miyatake S, Matsumoto N
Organizer
54 th Annual meeting of Society of Child Neurology
Place of Presentation
Sapporo, Japan
Year and Date
20120517-19
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