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

Research Project

Project/Area Number 18K09008
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 56010:Neurosurgery-related
Research InstitutionNippon 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
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2021: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2020: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2019: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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 / 内頸動脈 / 動脈瘤 / モヤモヤ病 / 脳動脈瘤 / ミスセンス / 遺伝子解析 / もやもや 病 / 内頸動脈瘤 / 遺伝子 / RNF / 内頸動脈狭窄 / RNF213 / 血管狭窄
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.

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。

Report

(5 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (7 results)

All 2022 2021

All Journal Article (4 results) (of which Peer Reviewed: 4 results,  Open Access: 4 results) Presentation (3 results)

  • [Journal Article] RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms.2021

    • Author(s)
      Murai Y(1), Ishisaka E(1), Watanabe A(2)(3), Sekine T(4), Shirokane K(1), Matano F(1), Nakae R(5), Tamaki T(6), Koketsu K(1), Morita A(1).
    • Journal Title

      Genes (Basel).

      Volume: 23 Issue: 10 Pages: 1468-1468

    • DOI

      10.3390/genes12101468

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.2021

    • Author(s)
      Murai Y(1), Ishisaka E(2), Watanabe A(3)(4), Sekine T(5), Shirokane K(2), Matano F(2), Nakae R(6), Tamaki T(7), Koketsu K(2), Morita A(2).
    • Journal Title

      Sci Rep.

      Volume: 11 Issue: 1 Pages: 22163-22163

    • DOI

      10.1038/s41598-021-01623-6

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A.2021

    • Author(s)
      Matano F(1), Murai Y(1), Watanabe A(2), Shirokane K(1), Igarashi
    • Journal Title

      Front Endocrinol (Lausanne)

      Volume: 12 Pages: 703410-703410

    • DOI

      10.3389/fendo.2021.703410

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Role of RNF213 polymorphism in defining quasi-moyamoya disease and definitive moyamoya disease.2021

    • Author(s)
      Ishisaka E(1), Watanabe A(2)(3), Murai Y(1), Shirokane K(4), Matano F(1), Tsukiyama A(1), Baba E(1), Nakagawa S(1), Tamaki T(4), Mizunari T(5), Tanikawa R(6), Morita A(1).
    • Journal Title

      Neurosurg Focus.

      Volume: 51 Issue: 3 Pages: E2-E2

    • DOI

      10.3171/2021.5.focus21182

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] 内頸動脈および中大脳動脈形成異常とRNF213変異の関係2022

    • Author(s)
      尾関 友博:] 村井 保夫:1, 石坂 栄太郎:2, 関根 鉄朗:3, 白銀 一貴:1, 亦野 文宏:1, 中江 竜太:4, 纐纈 健太:5, 玉置 智規:6, 水成 隆之:5, 森田 明夫:1
    • Organizer
      Stroke 2022
    • Related Report
      2021 Annual Research Report
  • [Presentation] RNF213 mutation is not involved in internal carotid artery and middle cerebral artery dysplasia2022

    • Author(s)
      尾関 友博:] 村井 保夫:1, 石坂 栄太郎:2, 関根 鉄朗:3, 白銀 一貴:1, 亦野 文宏:1, 中江 竜太:4, 纐纈 健太:5, 玉置 智規:6, 水成 隆之:5, 森田 明夫:1
    • Organizer
      日本脳神経外科学会学術総会
    • Related Report
      2021 Annual Research Report
  • [Presentation] もやもや病関連遺伝子変異 RNF213(c.14576G>A) の頭蓋内内頸動脈嚢状動脈瘤における検討2021

    • Author(s)
      村井保夫1,石坂栄太郎2,渡邉 淳3,4,白銀一貴5,亦野文宏1,纐纈健太6,玉置智規5,水成隆之6,森田明夫1
    • Organizer
      日本医科大学医学会総会
    • Related Report
      2021 Annual Research Report

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Published: 2018-04-23   Modified: 2023-01-30  

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