RNF213 gene related intracranial findings and risk evaluation for moyamoya disease

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H04871
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tohoku 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