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2017 Fiscal Year Final Research Report

RNF213 gene related intracranial findings and risk evaluation for moyamoya disease

Research Project

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Project/Area Number 15H04871
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

Kure Shigeo  東北大学, 医学系研究科, 教授 (10205221)

Co-Investigator(Kenkyū-buntansha) 冨永 悌二  東北大学, 医学系研究科, 教授 (00217548)
田邉 修  東北大学, 東北メディカル・メガバンク機構, 教授 (70221398)
Co-Investigator(Renkei-kenkyūsha) TAKI YASUYUKI  東北大学, 加齢医学研究所, 教授 (10375115)
Project Period (FY) 2015-04-01 – 2018-03-31
Keywordsもやもや病 / RNF213遺伝子変異 / 頭部MRI/MRA検査 / 東北メディカル・メガバンク
Outline of Final Research Achievements

Tohoku Medical Megabank has started screening program of brain MRI findings in its resident cohort.In this study we compered brain MRI/MRA findings of two participant groups that have the c.14576G>A-mutation or not, a Moyamoya disease related mutation in RNF213. Several findings specific to the mutation-positive group were identified. Volumes of various brain regions were measured, which were subject to statistical analysis for significant difference between the two groups.No metabolite has been identified to date, which plasma level differs significantly between the mutation-positive and negative groups.

Free Research Field

小児科学

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Published: 2019-03-29  

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