• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Gene analysis for the inherited arrhythmia and functional characterization of disease-causing rare variants by using zebrafish

Research Project

Project/Area Number 23591078
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Circulatory organs internal medicine
Research InstitutionKanazawa University

Principal Investigator

GAMOU TADATSUGU  金沢大学, 大学病院, 医員 (10579634)

Co-Investigator(Kenkyū-buntansha) HAYASHI Kenshi  金沢大学, 大学病院, 助教 (00422642)
KONNO Tetsuo  金沢大学, 医学系, 助教 (50377389)
Co-Investigator(Renkei-kenkyūsha) HIGASHIDA Haruhiro  金沢大学, 子供のこころ発達研究センター, 教授 (30093066)
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: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords遺伝性不整脈 / 遺伝子変異 / ゼブラフィッシュ / 循環器 / 遺伝子 / 機能解析 / 生理学
Research Abstract

Gene analysis showed mutations were found in 27 out of 90 patients with long QT syndrome, 7 out of 58 patients with inherited bradyarrhythmia, 8 out of 90 patients with lone atrial fibrillation. We performed cellular electrophysiological study for detected mutations. Sixteen mutations were loss of function mutations and 2 mutations were gain of function mutations. Morpholino KCNH2 knockdown in zebrafish embryos displayed a AV block and WT hHERG RNA injection restored normal repolarization.

Report

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

    (49 results)

All 2014 2013 2012 2011 Other

All Journal Article (24 results) (of which Peer Reviewed: 23 results) Presentation (20 results) (of which Invited: 1 results) Book (3 results) Remarks (2 results)

  • [Journal Article] Current perspectives in genetic cardiovascular disorders : from basic to clinical aspects2014

    • Author(s)
      Hayashi K, Konno T, (他4名)
    • Journal Title

      Heart Vessels

      Volume: 29(2) Pages: 129-41

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Impact of fluoroscopically-visible fluttering flap on clinical diagnosis of acute aortic dissection.2014

    • Author(s)
      Tanaka Y, Sakata K, Kawashiri MA, Nakanishi C, Konno T, Yoshimuta T, Hayashi K, Tomita S, Watanabe G, Yamagishi M.
    • Journal Title

      J Am Coll Cardiol.

      Volume: 63 Issue: 14 Pages: e31-e31

    • DOI

      10.1016/j.jacc.2013.10.094

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Vascular endothelial growth factor-bound stents: application of in situ capture technology of circulating endothelial progenitor cells in porcine coronary model. of2014

    • Author(s)
      Takabatake S, Hayashi K, Nakanishi C, Hao H, Sakata K, Kawashiri MA, Matsuda T, Yamagishi M.
    • Journal Title

      J Interv Cardiol

      Volume: 1 Issue: 1 Pages: 63-72

    • DOI

      10.1111/joic.12087

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects2014

    • Author(s)
      Kawashiri MA, Hayashi K, Konno T, Fujino N, Ino H, Yamagishi M.
    • Journal Title

      Heart Vessels

      Volume: 29 Issue: 2 Pages: 129-41

    • DOI

      10.1007/s00380-013-0391-5

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Sarcomere Gene Mutations Are Associated With Increased Cardiovascular Events in Left Ventricular Hypertrophy : Results From Multicenter Registration in Japan.2013

    • Author(s)
      Fujita T, Komuro I (18人中13番目)
    • Journal Title

      JACC Heart Fail

      Volume: 6 Issue: 6 Pages: 459-466

    • DOI

      10.1016/j.jchf.2013.08.007

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome2013

    • Author(s)
      Kurata Y
    • Journal Title

      Heart Rhythm

      Volume: 10 Issue: 1 Pages: 61-7

    • DOI

      10.1016/j.hrthm.2012.09.053

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case-control study in a Japanese population and functional analysis.2013

    • Author(s)
      Ma WJ, Hashii M, Munesue T, Hayashi K, Yagi K, Yamagishi M, Higashida H, Yokoyama S.
    • Journal Title

      Mol Autism

      Volume: 4 Issue: 1 Pages: 22-22

    • DOI

      10.1186/2040-2392-4-22

    • NAID

      120006325350

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel mutation in the transmembrane nonpore region of the KCNH22013

    • Author(s)
      Liu L, Hayashi K, Yamagishi M.
    • Journal Title

      Heart Rhythm.

      Volume: 10 Pages: 61-7

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impact of Systolic Dysfunction in Genotyped Hypertrophic Cardiomyopathy.2013

    • Author(s)
      Fhujino N, Hayashi K, Yamagishi M.
    • Journal Title

      Clin Cardiol.

      Volume: 36 Pages: 160-5

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Transient expression of cellular retinol-binding protein-1 during cardiac repair after myocardial infarction.2012

    • Author(s)
      Yu M, Hayashi K, Yamagishi M
    • Journal Title

      Pathol Int

      Volume: 62 Pages: 246-53

    • NAID

      10031185196

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Perfect correspondence of mitral valve perforation using real-time 3-dimensional transesophageal echocardiography.2012

    • Author(s)
      Tada H, Hayashi K, Yamagishi M.
    • Journal Title

      J Am Coll Cardiol.

      Volume: 59 Pages: 1914-1914

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Post-prandial remnant lipoprotein metabolism in autosomal recessive hypercholesterolaemia.2012

    • Author(s)
      Tada H, Hayashi K, Yamagishi M.
    • Journal Title

      Eur J Clin Invest.

      Volume: 42 Pages: 1094-9

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impact of visceral adipose tissue and subcutaneous adipose tissue on insulin resistance in middle-aged Japanese.2012

    • Author(s)
      Oka R, Hayashi K, Yamagishi
    • Journal Title

      Atheroscler Thromb.

      Volume: 19 Pages: 814-22

    • NAID

      130004845409

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Stress-induced takotsubo cardiomyopathy complicated with wall rupture and thrombus formation.2012

    • Author(s)
      Yoshida S, Hayashi K, Yamagishi M
    • Journal Title

      Int J Cardiol.

      Volume: 161

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Anomalous origin with myocardial bridging in coronary artery: stealth images in computed tomography.2012

    • Author(s)
      Yamamoto R, Hayashi K, Yamagishi M.
    • Journal Title

      J Am Coll Cardiol.

      Volume: 60 Pages: 2419-2419

    • NAID

      120005253226

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Rapid changes in plaque composition and morphology after intensive lipid lowering therapy: study with serial coronary2012

    • Author(s)
      Shimojima M, Hayashi K, Yamagishi M.
    • Journal Title

      Am J Cardiovasc Dis.

      Volume: 2 Pages: 84-8

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.2012

    • Author(s)
      Tada H, Konno T, Hayashi K, Yamagishi M
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 5 Pages: 35-41

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Efficacy and safety of coadministration of rosuvastatin, ezetimibe, and colestimide in heterozygous familial hypercholesterolemia.2012

    • Author(s)
      Kawashiri MA, Konno T, Hayashi K, Yamagishi M.
    • Journal Title

      Am J Cardiol.

      Volume: 109 Pages: 364-9

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Gene and protein expression analysis of mesenchymal stem cells derived from rat adipose tissue and bone marrow2011

    • Author(s)
      Konno T, Hayashi K, (他8名)
    • Journal Title

      Circ J.

      Volume: 75(9) Pages: 2260-8

    • NAID

      10029340006

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Invasive diagnostic imaging of coronary atherosclerosis2011

    • Author(s)
      Gamou T, Hayashi K, (他3名)
    • Journal Title

      Nihon Rinsho.

      Volume: 69(1) Pages: 69-73

    • NAID

      40017432901

    • Related Report
      2013 Final Research Report
  • [Journal Article] KCR1 Variant Implicated in Susceptibility to the Long QT Syndrome2011

    • Author(s)
      Hayashi K, Konno T, (他15名)
    • Journal Title

      J Mol Cell Cardiol.

      Volume: 50(1) Pages: 50-7

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.2011

    • Author(s)
      Tada H, Konno T, Hayashi K, Yamagishi M.
    • Journal Title

      Atherosclerosis.

      Volume: 219 Pages: 663-6

    • NAID

      120003628222

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Gene and protein expression analysis of mesenchymal stem cells derived from rat adipose tissue and bone marrow.2011

    • Author(s)
      Nakanishi C, Konno T, Hayashi K, Yamagishi M.
    • Journal Title

      Circ J.

      Volume: 75 Pages: 2260-8

    • NAID

      10029340006

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impact of severe coronary disease associated or not associated with diabetes mellitus on outcome of interventional treatment using stents: results from HERZ (Heart Research Group of Kanazawa) analyses.2011

    • Author(s)
      Uchiyama K, Hayashi K, Yamagishi M
    • Journal Title

      J Int Med Res.

      Volume: 39 Pages: 549-57

    • NAID

      120006407090

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Presentation] Mechanisms of fever-induced QT prolongation in a patient with a KCNH2 G584S mutation2014

    • Author(s)
      Hayashi K, Konno T
    • Organizer
      The 78th Annual Scientific Meeting of the Japanese Circulation Society Featured research session 16
    • Place of Presentation
      東京国際フォーラム(東京)
    • Year and Date
      2014-03-22
    • Related Report
      2013 Final Research Report
  • [Presentation] Mechanisms of fever-induced QT prolongation in a patient with a KCNH2 G584S mutation.2014

    • Author(s)
      Kenshi Hayashi, Tadashi Nakajima, Shoichi Tange, Hidekazu, Ino, Noboru Fujino, Tetsuo Konno, Toyonobu Tsuda, Yoshihiro Tanaka, Masa-aki Kawashiri, Yoshiaki Kaneko, Masahiko Kurabayashi, Masakazu Yamagishi
    • Organizer
      The 78th Annual Scientific Meeting of the Japanese Circulation Society
    • Place of Presentation
      東京国際フォーラム(東京)
    • Related Report
      2013 Annual Research Report
  • [Presentation] Long QT Syndrome Mutation Carriers in Japanese School Children and Their Clinical Course2013

    • Author(s)
      林研至
    • Organizer
      The 77th Annual Scientific Meeting of the Japanese Circulation Society
    • Place of Presentation
      パシフィコ横浜(神奈川県)(ラウンドテーブルディスカッション(6))
    • Year and Date
      2013-03-18
    • Related Report
      2013 Final Research Report
  • [Presentation] Impact of New LQTS Diagnostic Criteria on Detection of Long QT Syndrome with Carrying Gene Mutations2013

    • Author(s)
      Hayashi K, Konno T
    • Organizer
      American Heart Association SCIENTIFIC SESSIONS 2013
    • Place of Presentation
      Dallas Convention Center (USA)
    • Related Report
      2013 Final Research Report
  • [Presentation] 臨床心臓病up to date~突然死症候群の臨床:予知と予防の最前線~2013

    • Author(s)
      林研至
    • Organizer
      第61回日本心臓病学会学術集会教育講演
    • Place of Presentation
      パレア(熊本)
    • Related Report
      2013 Final Research Report
  • [Presentation] Impact of New LQTS Diagnostic Criteria on Detection of Long QT Syndrome with Carrying Gene Mutations2013

    • Author(s)
      Hayashi K, Konno T
    • Organizer
      The 28th Annual Meeting of the Japanese Heart Rhythm Society
    • Place of Presentation
      グランドプリンスホテル新高輪(東京)
    • Related Report
      2013 Final Research Report
  • [Presentation] Impact of New LQTS Diagnostic Criteria on Detection of Long QT Syndrome with Carrying Gene Mutations.2013

    • Author(s)
      Kenshi Hayashi, Noboru Fujino, Tetsuo Konno, Toyonobu Tsuda, Yoko Imi-hashida, Takekatsu Saito, Kunio Ohta, Hidekazu Ino, Masa-aki Kawashiri, and Masakazu Yamagishi.
    • Organizer
      American Heart Association SCIENTIFIC SESSIONS
    • Place of Presentation
      Dallas Convention Center (Dallas, TX. USA)
    • Related Report
      2013 Annual Research Report
  • [Presentation] 孤立性心房細動に認められる遺伝子異常とその意義2012

    • Author(s)
      林研至
    • Organizer
      The 27th Annual Meeting of the Japanese Heart Rhythm Society / Symposium II
    • Place of Presentation
      パシフィコ横浜(神奈川県)
    • Year and Date
      2012-07-06
    • Related Report
      2013 Final Research Report
  • [Presentation] Functional Characterization of Cardiac Ion Channel Gene Variants in Lone Atrial Fibrillation2012

    • Author(s)
      Hayashi K, Konno T
    • Organizer
      American Heart Association SCIENTIFIC SESSIONS 2012
    • Place of Presentation
      Los Angeles Convention Center (USA)
    • Related Report
      2013 Final Research Report
  • [Presentation] Prevalence and Outcomes of Young Athletes in Congenital Long QT Syndrome : Results from School Cardiac Screening and Gene Analysis2012

    • Author(s)
      林研至
    • Organizer
      The 76th Annual Scientific Meeting of the Japanese Circulation Society Symposium 12
    • Place of Presentation
      Fukuoka International Congress Center(福岡)
    • Related Report
      2013 Final Research Report
  • [Presentation] Cardiac ion channel mutations in acquired long QT syndrome2012

    • Author(s)
      林研至
    • Organizer
      The 76th Annual Scientific Meeting of the Japanese Circulation Society Asian Joint Case-Conference 8
    • Place of Presentation
      Fukuoka International Congress Center(福岡)
    • Related Report
      2013 Final Research Report
  • [Presentation] Functional Characterization of Cardiac Ion Channel Gene Variants in Lone Atrial Fibrillation2012

    • Author(s)
      Kenshi Hayashi
    • Organizer
      American Heart Association SCIENTIFIC SESSIONS 2012
    • Place of Presentation
      Los Angeles Convention Center, Los Angeles, CA
    • Related Report
      2012 Research-status Report
  • [Presentation] Prevalence and Outcomes of Young Athletes in Congenital Long QT Syndrome: Results from School Cardiac Screening and Gene Analysis2012

    • Author(s)
      Kenshi Hayashi
    • Organizer
      The 76th Annual Scientific Meeting of the Japanese Circulation Society
    • Place of Presentation
      Fukuoka International Congress Center, Fukuoka, Japan
    • Related Report
      2011 Research-status Report
  • [Presentation] Cardiac ion channel mutations in acquired long QT syndrome.2012

    • Author(s)
      Kenshi Hayashi
    • Organizer
      The 76th Annual Scientific Meeting of the Japanese Circulation Society
    • Place of Presentation
      Fukuoka International Congress Center, Fukuoka, Japan
    • Related Report
      2011 Research-status Report
  • [Presentation] Trafficking Competent KCNQ1 Variably Influences the Function of HERG Long QT Alleles2011

    • Author(s)
      Hayashi K, Konno T
    • Organizer
      Heart Rhythm 2011, 32nd Annual Scientific Sessions
    • Place of Presentation
      Moscone Center(USA)
    • Related Report
      2013 Final Research Report
  • [Presentation] Characterization of Compound Heterozygosity for Mutations R269W in KCNH2 and P1824A in SCN5A Associated with Long QT Syndrome and Sinus Node Dysfunction2011

    • Author(s)
      Hayashi K, Konno T
    • Organizer
      ACC.11 60th Annual Scientific Session
    • Place of Presentation
      Morial Convention Center (USA)
    • Related Report
      2013 Final Research Report
  • [Presentation] Trafficking-Competent KCNQ1 Variably Influences the Function of HERG Long QT Alleles.2011

    • Author(s)
      Kenshi Hayashi
    • Organizer
      Heart Rhythm 2011, 32nd Annual Scientific Sessions
    • Place of Presentation
      Moscone Center, San Francisco, CA, USA
    • Related Report
      2011 Research-status Report
  • [Presentation] Diagnostic Values of Myocardial Biopsy for Predicting Fibrotic Involvement of the Whole Hypertrophic Cardiomyopathy Heart in the Era of Cardiac Magnetic Resonance Imaging2011

    • Author(s)
      Tetsuo Konno
    • Organizer
      American Heart Association's scientific sessions 2011
    • Place of Presentation
      Orange County Convention center, Orlando, FL, USA
    • Related Report
      2011 Research-status Report
  • [Presentation] 孤立性心房細動に認められる遺伝子異常とその意義

    • Author(s)
      林 研至
    • Organizer
      The 27th Annual Meeting of the Japanese Heart Rhythm
    • Place of Presentation
      パシフィコ横浜(横浜)
    • Related Report
      2012 Research-status Report
  • [Presentation] Long QT Syndrome Mutation Carriers in Japanese School Children and Their Clinical Course

    • Author(s)
      Kenshi Hayashi
    • Organizer
      The 77th Annual Scientific Meeting of the Japanese
    • Place of Presentation
      パシフィコ横浜(横浜)
    • Related Report
      2012 Research-status Report
    • Invited
  • [Book] 家族性心房細動最新医学682013

    • Author(s)
      林研至
    • Publisher
      最新医学社
    • Related Report
      2013 Final Research Report
  • [Book] 最新医学2013

    • Author(s)
      林 研至
    • Total Pages
      9
    • Publisher
      最新医学社
    • Related Report
      2013 Annual Research Report
  • [Book] QT延長症候群の遺伝子診断に基づく発症機序の解明循環器科702011

    • Author(s)
      林研至
    • Publisher
      科学評論社
    • Related Report
      2013 Final Research Report
  • [Remarks]

    • URL

      http://intmed2.w3.kanazawa-u.ac.jp/index_j.html

    • Related Report
      2013 Final Research Report
  • [Remarks]

    • URL

      http://intmed2.w3.kanazawa-u.ac.jp/index_j.html

    • Related Report
      2011 Research-status Report

URL: 

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

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi