Elucidation of genetic and environmental factors for the onset of cerebrovascular disease due to mutation of the moyamoya disease susceptibility gene RNF213

Research Project

Project/Area Number	17K10818
Research Category	Grant-in-Aid for Scientific Research (C)
Allocation Type	Multi-year Fund
Section	一般
Research Field	Neurosurgery
Research Institution	Yamagata University
Principal Investigator	Kokubo Yasuaki 山形大学, 大学院医学系研究科, 准教授 (40343074)
Project Period (FY)	2017-04-01 – 2021-03-31
Project Status	Completed (Fiscal Year 2020)
Budget Amount *help	¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000) Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000) Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000) Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords	もやもや病 / RNF213 / スクリーニング / モヤモヤ病 / 頭蓋内主幹動脈狭窄 / 脳血管障害学
Outline of Final Research Achievements	RNF213 gene variants were analyzed in 84 patients with moyamoya disease, and variants were found in 61 cases and 72.6%. RNF213 mutant group had a high rate of bleeding and was more likely to develop posterior cerebral artery stenosis. In addition, the event incidence such as cerebral infarction and intracerebral hemorrhage did not affect the presence of variance. Furthermore, RNF213 screening was performed on 38 families of patients with RNF213 variants. RNF213 was found in 22 cases (57.9%). Three cases (13.6%) of these had moyamoya disease, and one case had intracranial main artery occlusion. As a result, it was shown that screening of families of RNF213 variants cases might also be useful for early diagnosis of moyamoya disease and intracranial main artery stenosis or occlusion.
Academic Significance and Societal Importance of the Research Achievements	もやもや病あるいは脳主幹動脈狭窄・閉塞疾患は、その早期診断が薬物治療や外科的血行再建術などの早期治療に繋がり、結果的に脳梗塞や脳出血の発症予防となる疾病であるため、その早期発見が非常に重要である。本研究結果により、RNF213変異のスクリーニング検査により、これらの疾患の早期発見に有用である可能性が示唆され、そういった意味では今後の医療の発展の一助になったと考えられる。