Identification of expression mechanism by comprehensive gene analysis of Moyamoya disease analogous vascular stenosis

2021 Fiscal Year Final Research Report

• Project/Area Number: 18K09008
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56010:Neurosurgery-related
• Research Institution: Nippon Medical School
• Principal Investigator: Murai Yasuo 日本医科大学, 医学部, 准教授 (30287750)
• Co-Investigator(Kenkyū-buntansha): 渡邉 淳 金沢大学, 附属病院, 特任教授 (10307952) ; 亦野 文宏 日本医科大学, 医学部, 助教 (70557511)
• Project Period (FY): 2018-04-01 – 2022-03-31
• Keywords: 脳神経外科 / 脳血管障害 / もやもや病 / 内頸動脈閉塞症 / 遺伝子変異

Outline of Final Research Achievements

The RNF213 c.14576G>A mutation was found in 64 patients (84.2%) with MMD and 8 patients (80%) with QMMD; no significant difference in mutation frequency was observed between cohorts. There are two forms of QMMD, one in which the vascular abnormality is associated with an underlying disease, and the other in which MMD is coincidentally complicated by an unrelated underlying disease. It has been suggested that the presence or absence of the RNF213 c.14576G>A mutation may be useful in distinguishing between these disease types.
When the etiology and location of AN were more restricted, the incidence of RNF213 mutations in ICA-AN was higher than that reported in previous studies. Our results suggest that strict maternal vessel selection and pathological selection of AN morphology may reveal an association between genetic mutations and ICA-AN development.

Free Research Field

脳神経外科

Academic Significance and Societal Importance of the Research Achievements

QMMDには、血管の異常が基礎疾患に関連している場合と、MMDに無関係の基礎疾患が偶然に合併している場合の2つの形態がある。
本研究の結果は、RNF213（c.14576G>A）変異の関与が指摘されている全身性血管疾患に関する今後の研究の基礎となる可能性がある。
RNF213 c.14576G > A変異はICAおよびMCAの先天性異形成とは関連がない可能性がある。