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2012 Fiscal Year Final Research Report

Development of a genetic test to evaluate the risk for Moyamoya disease

Research Project

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Project/Area Number 23659512
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, 大学院・医学系研究科, 教授 (10205221)

Co-Investigator(Kenkyū-buntansha) TOMINAGA Teiji  東北大学, 大学院・医学系研究科, 教授 (00217548)
Project Period (FY) 2011 – 2012
Keywordsモヤモヤ病 / 発症機序 / 遺伝子検査
Research Abstract

Moyamoya disease (MMD) shows progressive cerebral angiopathy characterized by bilateral internal carotid artery stenosis and abnormal collateral vessels. A genome-wide association study was performed, which resulted in a strong association of chromosome17q25-ter with MMD risk. A single haplotype consisting of seven SNPs at the RNF213 locuswas tightly associated with MMD (P=5.3x10-10). Mutational analysis of RNF213 revealed a founder mutation, p.R4859K, in 73% of non-familial MMD cases and 1.4% of controls; this mutation greatly increases the risk of MMD (P=1.2x10-43, odds ratio=190.8). We developed a genetic testing method for this founder mutation by using CASSOH (competitive allele-specific short oligonucleotide hybridization). The CASSOH method enables us to detect the target mutation with immunechromatography without expertize, which would be useful for evaluation of a risk for MMD risk in bedside and clinic.

  • Research Products

    (16 results)

All 2013 2012 2011

All Journal Article (8 results) (of which Peer Reviewed: 8 results) Presentation (8 results)

  • [Journal Article] Homozygous c.14576G>A variant in RNF213 is the strong predictor for early-onset and severe form of Moyamoya disease2012

    • Author(s)
      Miyatake S, Miyake N, Touho H, Nishimura-Tadaki A, Kondo Y, Okada I, Tsurusaki Y, Doi H, Sakai H, Saitsu H, M.D., Yamamoto T, Higurashi M, Kawahara N, Kawauchi H, Nagasaka K, Okamoto N, Mori T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsubara Y, Kure S, and Matsumoto N
    • Journal Title

      Neurology

      Volume: 78 Pages: 803-810

    • DOI

      DOI:10.1212/WNL.0b013e318249f71f

    • Peer Reviewed
  • [Journal Article] Infantile Tullio Phenomenon2012

    • Author(s)
      Kakisaka Y, Hino-Fukuyo N, Miyazaki H, Kure S
    • Journal Title

      J Pediatr

      Volume: 162 Pages: 880

    • DOI

      DOI:10.1016/j.jpeds.2012.10.049

    • Peer Reviewed
  • [Journal Article] Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice2012

    • Author(s)
      Moriya K, Suzuki M, Watanabe Y, Takahashi T, Aoki, Y, Uchiyama T, Kumaki, S, Sasahara Y, Minegishi M, Kure S, Tsuchiya S, Sugamura K, Ishii N
    • Journal Title

      PLoS One

      Volume: 7 Pages: e37892

    • DOI

      DOI:10.1371/journal.pone.0037892

    • Peer Reviewed
  • [Journal Article] Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A132012

    • Author(s)
      Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S
    • Journal Title

      Mol Genet Metab

      Volume: 105 Pages: 553-558

    • DOI

      DOI:10.1016/j.ymgme.2011.12.024

    • Peer Reviewed
  • [Journal Article] Mutations in genes encoding the glycine cleavage system predispose to neural tube defects2012

    • Author(s)
      Narisawa A, Komatsuzaki S, Kikuchi A, Niihori T, Aoki Y, Fujiwara K, Tanemura M, Hata A, Suzuki Y, Relton CL, Stanier P, Grinham J, Leung KY, Partridge D, Robinson A, Stone V, Gustavsson P, Copp AJ, Greene NDE, Tominaga T, Matsubara Y, Kure S
    • Journal Title

      Hum Mol Genet

      Volume: 21 Pages: 1496-1503

    • DOI

      DOI:10.1093/hmg/ddr585

    • Peer Reviewed
  • [Journal Article] Hypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndrome2012

    • Author(s)
      Uematsu M, Haginoya K, Kikuchi A, Nakayama T, Kakisaka Y, Numata Y, Kobayashi T, Hino-Fukuyo N Fujiwara I, Kure S
    • Journal Title

      J Neurol Sci

      Volume: 315 Pages: 77-81

    • DOI

      DOI:10.1016/j.jns.2011.11.025

    • Peer Reviewed
  • [Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene2011

    • Author(s)
      Kamada F., Aoki, Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori, T Ono, M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 34-40

    • DOI

      DOI:10.1038/jhg.2010.132

    • Peer Reviewed
  • [Journal Article] Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia2011

    • Author(s)
      Tsuyusaki Y, Shimbo H, Wada T, Iai M, Tsuji M, Yamashita S, Aida N, Kure S, Osaka H
    • Journal Title

      Brain Dev

      Volume: 34 Pages: 72-75

    • DOI

      DOI:10.1016/j.braindev.2011.01.005

    • Peer Reviewed
  • [Presentation] モヤモヤ病遺伝子を追う2013

    • Author(s)
      呉繁夫
    • Organizer
      広島先天代謝異常症治療研究会
    • Place of Presentation
      広島
    • Year and Date
      2013-02-08
  • [Presentation] Identification of Moyamoya disease gene, RNF2132012

    • Author(s)
      Kure S
    • Organizer
      (Invited lecture) NAVBO Workshops in Vascular Biology 2012
    • Place of Presentation
      Pacific Grove, CA, USA
    • Year and Date
      20121014-18
  • [Presentation] モヤモヤ病感受性遺伝子の同定とその臨床的意義2012

    • Author(s)
      呉繁夫
    • Organizer
      日本小児神経学会総会
    • Place of Presentation
      札幌市
    • Year and Date
      20120517-19
  • [Presentation] Identification of Moyamoya disease gene and its clinical significance2012

    • Author(s)
      Kure S
    • Organizer
      GCOE (Global center of excellence) meeting
    • Place of Presentation
      Singapore
    • Year and Date
      2012-08-20
  • [Presentation] モヤモヤ病遺伝子を追う特別講演2012

    • Author(s)
      呉繁夫
    • Organizer
      日本小児科学会秋田地方会
    • Place of Presentation
      秋田市
    • Year and Date
      2012-07-21
  • [Presentation] モヤモヤ病感受性遺伝子の同定とその臨床的意義2012

    • Author(s)
      呉繁夫
    • Organizer
      日本小児神経学会関東地方会特別講演
    • Place of Presentation
      宇都宮
    • Year and Date
      2012-03-17
  • [Presentation] Identification of Moyamoya disease gene2011

    • Author(s)
      Kure S
    • Organizer
      Annual meeting of American Society of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      20111011-15
  • [Presentation] モヤモヤ病感受性遺伝子の同定2011

    • Author(s)
      呉繁夫
    • Organizer
      日本小児神経学会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28

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Published: 2014-09-25  

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