Functional analysis of heritable risk factors for moyamoya disease and stroke

2022 Fiscal Year Final Research Report

• Project/Area Number: 20H03790
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 56010:Neurosurgery-related
• Research Institution: Kyoto University
• Principal Investigator: Tezuka Tohru 京都大学, 医学研究科, 特定講師 (50312319)
• Co-Investigator(Kenkyū-buntansha): S Youssefian 京都大学, 医学研究科, 教授 (00210576) ; Kim Minsoo 京都大学, 医学研究科, 准教授 (50466835) ; 水島 恒裕 兵庫県立大学, 理学研究科, 教授 (90362269)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: もやもや病 / シグナル伝達 / RNF213 / 血管閉塞性疾患

Outline of Final Research Achievements

The mechanism by which RNF213 mutations cause a variety of vascular occlusive diseases is not yet well understood. We aimed to elucidate the disease mechanism by identifying new intracellular signaling pathways regulated by RNF213 and finding abnormalities caused by RNF213 mutations, using omics studies. In particular, we found various pathways regulated by RNF213 such as those for cell death and inflammation in response to lipid stress. We also elucidated how RNF213 regulates these pathways by analyzing the role of each domain of RNF213 and the effect of RNF213 mutations found in patients.

Free Research Field

分子細胞生物学

Academic Significance and Societal Importance of the Research Achievements

本研究により、RNF213が細胞内シグナル伝達に果たす役割の理解が深まることで、もやもや病・脳梗塞・冠動脈疾患など、多様な血管閉塞性疾患のメカニズムが解明されること、また、疾患メカニズムに基づく予防・治療法の創出への貢献が期待できることに、本研究の学術的・社会的な意義がある。