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Development of a simple genetic test of RNF213 to evaluate risk for moyamoya disease

Research Project

Project/Area Number 15K15385
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

Kure Shigeo  東北大学, 医学系研究科, 教授 (10205221)

Co-Investigator(Kenkyū-buntansha) 冨永 悌二  東北大学, 医学系研究科, 教授 (00217548)
Project Period (FY) 2015-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywordsもやもや病 / 遺伝子検査 / リスク診断 / RNF213 / 創始者変異 / 発症リスク予測 / RNF213遺伝子 / 高頻度変異 / MMP9 / 早期介入
Outline of Final Research Achievements

Moyamoya dissease is characterized by stenosis of occlusion of terminal portion of bilateral carotid artery and development of fine capillary vessel network. Development of test for risk evaluation for moyamoya disease would be desired for improvement of prognosis by the bypass operation. We have identified the founder variant of c.14576G>A in RNF213 gene,which increases risk for moyamoya disease by 190 hold (J Hum Genet, 2011). In this study we developed a simple and rapid genetic test for detection of c.14576G>A in RNF213 gene. We also evaluated the efficiency of combination test of the c.14576G>A genotyping and the blood MMP9 level. This combo did not increased the efficiency of risk evaluation compared with the genotyping alone. A new biomarker would be necessary for better prediction of moyamoya disease.

Report

(3 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • Research Products

    (5 results)

All 2017 2016 2015

All Journal Article (4 results) (of which Peer Reviewed: 4 results,  Acknowledgement Compliant: 2 results) Book (1 results)

  • [Journal Article] Temporal profile of magnetic resonance angiography and decreased ratio of regulatory T cells after immunological adjuvant administration to mice lacking RNF213, a susceptibility gene for moyamoya disease.2016

    • Author(s)
      Kanoke A, Fujimura M, Niizuma K, Fujimura T, Kakizaki A, Ito A, Sakata H, Sato-Maeda M, Kure S, Tominaga T.
    • Journal Title

      Brain Res

      Volume: in press Pages: 1-9

    • DOI

      10.1016/j.brainres.2016.03.009

    • Related Report
      2016 Annual Research Report 2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Temporal profile of the vascular anatomy evaluated by 9.4-tesla magnetic resonance angiography and histological analysis in mice with the R4859K mutation of RNF213, the susceptibility gene for moyamoya disease.2015

    • Author(s)
      Kanoke A, Fujimura M, Niizuma K, Ito A, Sakata H, Sato-Maeda M, Morita-Fujimura Y, Kure S, and Tominaga T.
    • Journal Title

      Brain Res

      Volume: 1624 Pages: 497-505

    • DOI

      10.1016/j.brainres.2015.07.039

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213.2015

    • Author(s)
      Inoue T, Murakami N, Sakadume S, Kido Y, Kikuchi A, Ichinoi N, Suzuki K, Kure S, Sakuta R.
    • Journal Title

      Pediatr Int.

      Volume: 57 Issue: 4 Pages: 798-801

    • DOI

      10.1111/ped.12689

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease.2015

    • Author(s)
      Ito A, Fujimura M, Niizuma K, Kanoke A, Sakata H, Morita-Fujimura Y, Kikuchi A, Kure S, Tominaga T.
    • Journal Title

      Brain Res

      Volume: 16 Pages: 310-320

    • DOI

      10.1016/j.brainres.2014.11.014

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Book] Moyamoya Disease Explored Through RNF2132017

    • Author(s)
      Shigeo Kure (Edts.Koizumi A, Nagata K, Houkin K, Tominaga T, Miyamoto S, Kure S, Tournier-Lasserve)
    • Total Pages
      185
    • Publisher
      Springer
    • Related Report
      2016 Annual Research Report

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Published: 2015-04-16   Modified: 2018-03-22  

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