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Genetic analysis and research on treatment of congenital myasthenic syndromes with Dok-7 mutations (Dok-7 CMS) in Japan.

Research Project

Project/Area Number 20591000
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Neurology
Research InstitutionNagasaki University

Principal Investigator

FUKUDA Taku  Nagasaki University, 大学院・医歯薬総合研究科, 助教 (50437894)

Co-Investigator(Kenkyū-buntansha) MOTOMURA Masakatsu  長崎大学, 大学院・医歯薬総合研究課, 講師 (70244093)
EGUCHI Katsumi  佐世保市立総合病院, 院長 (30128160)
Co-Investigator(Renkei-kenkyūsha) TSUJINO Akira  長崎大学, 病院 (70423639)
HIGUCHI Osamu  東京大学, 医科学研究所腫瘍抑制分野, 准教授 (50361720)
YAMANASHI Yuji  東京大学, 医科学研究所腫瘍抑制分野, 教授 (40202387)
Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords遺伝子診断 / 先天性筋無力症候群 / Dok-7 / 重症筋無力症 / 神経筋接合部疾患 / 神筋接合部疾患 / DOK-7
Research Abstract

Dok-7 was discovered in 2006 as a key molecule in deveropement of neuromuscular junction, and overseas patients with congenital myasthenic syndrome with Dok-7 mutations (Dok-7 CMS) have been reported. Our purpose of this project is to find cases with Dok-7 CMS in Japan, to clarify the pathogenesis of Dok-7 CMS, and try to establish the new treatment of myasthenia. We have not found any cases of Dok-7 CMS and we continue to make effort to survey cases with Dok-7 CMS in Japan.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (24 results)

All 2010 2009 2008 Other

All Journal Article (7 results) (of which Peer Reviewed: 3 results) Presentation (14 results) Remarks (3 results)

  • [Journal Article] Efficacy of tacrolimus in Sjogren's syndrome-associated CNS disease with aquaporin-4 autoantibodies2009

    • Author(s)
      Taku Fukuda, et al
    • Journal Title

      J Neurol 256

      Pages: 1762-1764

    • NAID

      120006983925

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 新知見Overview:MuSKとDok-72008

    • Author(s)
      本村政勝、福田卓、吉村俊朗, 他
    • Journal Title

      日本臨牀 66巻

      Pages: 1140-1148

    • Related Report
      2010 Final Research Report
  • [Journal Article] Congenital myasthenia related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.2008

    • Author(s)
      Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG
    • Journal Title

      J Clin Invest. 118巻

      Pages: 1867-1876

    • Related Report
      2010 Final Research Report
    • Peer Reviewed
  • [Journal Article] レセプターへの自己免疫からみた神経筋接合部障害:重症筋無力症をモデルとして2008

    • Author(s)
      本村政勝, 福田卓, 吉村俊朗, 辻畑光宏
    • Journal Title

      Medical Science Digest 34巻

      Pages: 22-25

    • Related Report
      2010 Final Research Report
  • [Journal Article] 新知見Overview : MuSKとDok-72008

    • Author(s)
      本村政勝, 福田卓, 吉村俊朗, 他
    • Journal Title

      日本臨林 66(6)

      Pages: 1140-1148

    • Related Report
      2008 Annual Research Report
  • [Journal Article] Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating.2008

    • Author(s)
      Shen XM, Fukuda T, OhnoK, Sine SM, Engel AG.
    • Journal Title

      J Clin Invest. 118(5)

      Pages: 1867-1876

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] レセプターへの自己免疫からみた神経筋接合部障害 : 重症筋無力症をモデルとして2008

    • Author(s)
      本村政勝, 福田 卓, 吉村俊朗, 辻畑光宏
    • Journal Title

      Medical Science Digest 34(1)

      Pages: 22-25

    • Related Report
      2008 Annual Research Report
  • [Presentation] Antibodies against main immunogenic region (MIR) of the nicotinic acetylcholine receptor and ocular Myasthenia Gravis.2010

    • Author(s)
      枡田智子, 本村政勝, 福田卓, 江口勝美, 他
    • Organizer
      International Congress on Neuromuscular disease.
    • Related Report
      2010 Final Research Report
  • [Presentation] Myasthenia Gravis and associated autoimmune disease ; clinical features and autoantibodies.2010

    • Author(s)
      本村政勝, 福田卓, 江口勝美, 他
    • Organizer
      International Congress on Neuromuscular disease.
    • Related Report
      2010 Final Research Report
  • [Presentation] アセチルコリン受容体・α67-76抗体は重症筋無力症の重症度と相関する2009

    • Author(s)
      枡田智子、本村政勝、福田卓、辻野彰、江口勝美, 他
    • Organizer
      日本神経免疫学会
    • Related Report
      2010 Final Research Report
  • [Presentation] 重症筋無力症の嚥下機能評価に関する検討2009

    • Author(s)
      枡田智子、本村政勝、福田卓、辻野彰、江口勝美, 他
    • Organizer
      日本内科学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] 重症筋無力症におけるアセチルコリン受容体・α67-76抗体の臨床的意義2009

    • Author(s)
      枡田智子、本村政勝、福田卓、辻野彰、江口勝美, 他
    • Organizer
      日本神経学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] アセチルコリン受容体・α67-76抗体とMG嚥下障害に関する検討2009

    • Author(s)
      本村政勝、福田卓、辻野彰、江口勝美, 他
    • Organizer
      日本神経学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] MuSK抗体と抗コリンエステラーゼ剤のラット運動終板形成に及ぼす影響2009

    • Author(s)
      吉村俊朗、本村政勝、福田卓、辻野彰、江口勝美, 他
    • Organizer
      日本神経学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] 当科における重症筋無力症・胸腺腫に合併した赤芽球癆(PRCA)の5症例2009

    • Author(s)
      佐藤克也、福田卓、辻野彰、本村政勝、江口勝美, 他
    • Organizer
      日本神経治療学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] タクロリムス長期投与中に赤芽球癆を合併した重症筋無力症の1例2008

    • Author(s)
      佐藤克也、福田卓、徳田昌紘、辻野彰、本村政勝、江口勝美, 他
    • Organizer
      日本神経学会九州地方会
    • Year and Date
      2008-06-14
    • Related Report
      2010 Final Research Report
  • [Presentation] タクロリムス長期投与中に赤芽球癆を合併した重症筋無力症の1例2008

    • Author(s)
      佐藤克也, 福田 卓, 徳田昌紘, 他
    • Organizer
      日本神経学会九州地方会
    • Place of Presentation
      鹿児島
    • Year and Date
      2008-06-14
    • Related Report
      2008 Annual Research Report
  • [Presentation] 特異的チロシンキナーゼ(MuSK)抗体の運動終板再生に与える影響2008

    • Author(s)
      徳田昌紘、中野治郎、福田卓、本村政勝、江口勝美, 他
    • Organizer
      日本神経学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] 重症筋無力症の嚥下機能評価に関する検討2008

    • Author(s)
      本村政勝、石飛進吾、福田卓、江口勝美, 他
    • Organizer
      日本神経学会総会
    • Related Report
      2010 Final Research Report
  • [Presentation] 特異的チロシンキナーゼ(MuSK)抗体の運動終板再生に与える影響2008

    • Author(s)
      徳田昌紘, 中野治郎, 福田 卓, 他
    • Organizer
      日本神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2008 Annual Research Report
  • [Presentation] 重症筋無力症の嚥下機能評価に関する検討2008

    • Author(s)
      本村政勝, 石飛進吾, 福田 卓, 他
    • Organizer
      日本神経学会総会
    • Place of Presentation
      横浜
    • Related Report
      2008 Annual Research Report
  • [Remarks] ホームページ等

    • URL

      http://www.med.nagasaki-u.ac.jp/intmed-1/

    • Related Report
      2010 Final Research Report
  • [Remarks]

    • URL

      http://www.med.nagasaki-u.ac.jp/intmed-1/

    • Related Report
      2010 Annual Research Report
  • [Remarks]

    • URL

      http://www.med.nagasaki-u.ac.jp/intmed-1/

    • Related Report
      2009 Annual Research Report

URL: 

Published: 2008-04-01   Modified: 2016-04-21  

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