Basic research for personalized medicine for cerebral infarction

2018 Fiscal Year Final Research Report

• Project/Area Number: 17K16627
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurosurgery
• Research Institution: The University of Tokyo
• Principal Investigator: Miyawaki Satoru 東京大学, 医学部附属病院, 講師 (70407914)
• Project Period (FY): 2017-04-01 – 2019-03-31
• Keywords: 脳梗塞 / ＲＮＦ213 / 頭蓋内動脈硬化 / 修飾因子

Outline of Final Research Achievements

We conducted integrated research on stroke-related genetic variant RNF213 c.14576G> A, especially important for Japanese population. The characteristics of intracranial artery stenosis with RNF 213 c.14576 G> A has been revealed. In addition, we clarified the genetic factors involved in the onset of cerebral infarction in intracranial artery stenosisi, and it became clear that they differ depending on the presence or absence of RNF213 c.14576G> A. In addition to RNF213 c.14576G> A, genetic factors related to the onset of intracranial major arterial stenosis has been identified through genome wide association study.

Free Research Field

脳神経外科学

Academic Significance and Societal Importance of the Research Achievements

頭蓋内主幹動脈狭窄に限った臨床的・遺伝的背景の解析は世界的には少なく、学術的意義は高いと考えられる。RNF213 c.14576G>Aは日本人の2%が有する遺伝子変異である、その臨床的意義を明らかにした本研究は社会的意義が大きいと考える。