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Does every patient of congenital RYR1-associated myopathy develop malignant hyperthermia?

Research Project

Project/Area Number 23592291
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Anesthesiology/Resuscitation studies
Research InstitutionHiroshima University

Principal Investigator

TOSHIMICHI Yasuda  広島大学, 医歯薬学保健学研究院(医), 助教 (20432718)

Co-Investigator(Kenkyū-buntansha) KAWAMOTO Masashi  広島大学, 医歯薬学保健学研究院, 教授 (40127642)
HARAKI Toshiaki  広島大学, 病院, 助教 (40403563)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2011: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Keywordsリアノジン受容体 / 悪性高熱症 / 先天性筋疾患 / 遺伝子変異
Research Abstract

We investigated how the variants of the type 1 ryanodine receptor (RYR1) modulate intracellular calcium concentration. The variants which exist in C terminal of RYR1 have hypersensitive response to caffeine, while the variants which exist in center of RYR1 have less sensitive to caffeine than wild type. Therefore, we concluded that the patients of congenital myopathy who have the variants in C terminal of RYR1 have low possibility to predispose malignant hyperthermia, on the other hand, the patients of congenital myopathy who have the variants in center of RYR1 have high possibility to predispose malignant hyperthermia.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (18 results)

All 2013 2012 2011

All Journal Article (7 results) (of which Peer Reviewed: 7 results) Presentation (9 results) Book (2 results)

  • [Journal Article] Intrathecal adrenomedullin modulates acute inflammatory pain in the rat formalin test.2013

    • Author(s)
      Sugimoto Y, Shiraishi S, Yasuda T, Hamada H, Kawamoto M.
    • Journal Title

      Neurosci Lett.

      Volume: 552 Pages: 146-150

    • DOI

      10.1016/j.neulet.2013.07.055

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor2013

    • Author(s)
      Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, Treves S, Zorzato F
    • Journal Title

      Hum Mutat

      Volume: 34(1) Pages: 90-184

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.2013

    • Author(s)
      Toshimichi Yasuda
    • Journal Title

      Human Mutation

      Volume: 34 Issue: 1 Pages: 184-190

    • DOI

      10.1002/humu.22209

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Calcium channel blockers are inadequate for malignant hyperthermia crisis2012

    • Author(s)
      Migita T, Mukaida K, Yasuda T, Hamada H, Kawamoto M
    • Journal Title

      J Anesth

      Volume: 26(4) Pages: 84-579

    • NAID

      10031070445

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Calcium channel blockers are inadequate for malignant hyperthermia crisis2012

    • Author(s)
      Takako Migita
    • Journal Title

      Journal of Anesthesia

      Volume: 26 Issue: 4 Pages: 579-584

    • DOI

      10.1007/s00540-012-1347-0

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)2011

    • Author(s)
      Haraki T, Yasuda T, Mukaida K, Migita T, Hamada H, Kawamoto M
    • Journal Title

      Anesth Analg

      Volume: 113(6) Pages: 7-1461

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).2011

    • Author(s)
      Haraki T, Yasuda T, Mukaida K, et al.
    • Journal Title

      Anesthesia and Analgesia

      Volume: 113 Pages: 1461-7

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Presentation] Effect of dantrolene on prevention of malignant hyperthermia crisis by decreasing the sensitivity of ryanodine receptor 12013

    • Author(s)
      Mukaida K., Haraki T., Yasuda T., Hamada H., Kawamoto M
    • Organizer
      Euroanaesthesia
    • Place of Presentation
      Barcelona, Spain
    • Related Report
      2013 Final Research Report
  • [Presentation] Effect of dantrolene on prevention of malignant hyperthermia crisis by decreasing the sensitivity of ryanodine receptor 12013

    • Author(s)
      Mukaida K, Haraki T, Yasuda T, Hamada H, Kawamoto M
    • Organizer
      Euroanesthesia
    • Place of Presentation
      Barcelona, Spain
    • Related Report
      2013 Annual Research Report
  • [Presentation] JP-45 variants are genetically encoded modulators of DHPR activity : a study in human skeletal muscle myotubes and mouse FDB fibers2012

    • Author(s)
      Yasuda T., Delbono O., Girard T., Albert Urwyler A., Zorzato F. and Treves S
    • Organizer
      Leeds, United Kingdom. European malignant hyperthermia group 2012
    • Place of Presentation
      Annual Meeting
    • Related Report
      2013 Final Research Report
  • [Presentation] JP-45 variants are genetically encoded modulators of DHPR activity: a study in human skeletal muscle myotubes and mouse FDB fibers2012

    • Author(s)
      Susan Treves
    • Organizer
      European malignant hyperthermia group 2012 Annual Meeting
    • Place of Presentation
      イギリス
    • Related Report
      2012 Research-status Report
  • [Presentation] 悪性高熱症素因患者由来の培養骨格筋細胞の脱分極刺激によるカルシウム動態の検討2012

    • Author(s)
      向田 圭子
    • Organizer
      日本麻酔科学会 第59回学術集会
    • Place of Presentation
      神戸
    • Related Report
      2012 Research-status Report
  • [Presentation] Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)2011

    • Author(s)
      Haraki T., Yasuda T., Mukaida K., Migita T.,Hamada H., Kawamoto M
    • Organizer
      Euroanaesthesia
    • Place of Presentation
      アムステルダム,オランダ
    • Related Report
      2013 Final Research Report
  • [Presentation] Effect of dantrolene on calcium homeostasis in cultured myotubes from individuals with predisposition to malignant hyperthermia2011

    • Author(s)
      Mukaida K., Migita T., Haraki T., Yasuda T.,Hamada H., Kawamoto M
    • Organizer
      Euroanaesthesia
    • Place of Presentation
      アムステルダム,オランダ
    • Related Report
      2013 Final Research Report
  • [Presentation] Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).2011

    • Author(s)
      Haraki T., Yasuda T., Mukaida K., Migita T., Hamada H., Kawamoto M.
    • Organizer
      Euroanaesthesia
    • Place of Presentation
      アムステルダム
    • Related Report
      2011 Research-status Report
  • [Presentation] Effect of dantrolene on calcium homeostasis in cultured myotubes from individuals with predisposition to malignant hyperthermia2011

    • Author(s)
      Mukaida K., Migita T., Haraki T., Yasuda T., Hamada H., Kawamoto M.
    • Organizer
      Euroanaesthesia
    • Place of Presentation
      アムステルダム
    • Related Report
      2011 Research-status Report
  • [Book] 術後鎮痛のすべて2013

    • Author(s)
      川真田 樹人
    • Total Pages
      276
    • Publisher
      文光堂
    • Related Report
      2013 Annual Research Report
  • [Book] 麻酔・集中治療医のための抗菌薬使用と感染対策2012

    • Author(s)
      竹末芳生 山田芳嗣 編集
    • Total Pages
      191
    • Publisher
      克誠堂出版
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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