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

2020 Fiscal Year Final Research Report

• 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
• Keywords: もやもや病 / RNF213 / スクリーニング

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.

Free Research Field

脳神経外科

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。