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Mechanism of Inherited Arrhythmia Syndrome with SCN10A mutation

Research Project

Project/Area Number 15K19375
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Cardiovascular medicine
Research InstitutionShiga University of Medical Science

Principal Investigator

FUKUYAMA MEGUMI  滋賀医科大学, 医学部, 助教 (60625771)

Research Collaborator HORIE Minoru  
OHNO Seiko  
Project Period (FY) 2015-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords遺伝性不整脈症候群 / 遺伝子 / 心筋ナトリウムチャネル / SCN10A / Nav1.8 / 循環器 / 家族性不整脈症候群 / ブルガダ症候群 / SCN10A遺伝子
Outline of Final Research Achievements

I have investigated SCN10A polymorphisms in patients with inherited primary arrhythmia syndrome (IPAS), and their clinical characteristics.
1) Our SCN5A mutation carriers (except LQTS) with additional SCN10A SNPs were significantly symptomatic and more experience fatal arrhythmic attacks. Multiple genetic hits by SCN5A and SCN10A variants may result in a severer loss-of-function of voltage-gated sodium channels and thereby more malignant phenotypes. 2) We identified rare SCN10A variants in patients with IPAS, and half of them were suspected as deleterious using the prediction software. Most of patients with deleterious SNPs suffered from severe symptom. More than half of them experienced fatal arrhythmic attacks and 30% are deceased. Rare SNPs of SCN10A predicted as deleterious by prediction software might modify clinical severity of carriers.
I clarified these phenomena in our study.

Report

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

    (15 results)

All 2017 2016 2015

All Journal Article (4 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 4 results,  Open Access: 4 results,  Acknowledgement Compliant: 2 results) Presentation (10 results) (of which Int'l Joint Research: 8 results) Book (1 results)

  • [Journal Article] Phenotypic Variability of <i>ANK2</i> Mutations in Patients With Inherited Primary Arrhythmia Syndromes2016

    • Author(s)
      Ichikawa M, Horie M, et al.
    • Journal Title

      Circulation Journal

      Volume: 80 Issue: 12 Pages: 2435-2442

    • DOI

      10.1253/circj.CJ-16-0486

    • NAID

      130005284992

    • ISSN
      1346-9843, 1347-4820
    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family2016

    • Author(s)
      Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Kimura H, Itoh H, Hayashi H, Horie M.
    • Journal Title

      Internal Medicine

      Volume: 55 Issue: 3 Pages: 259-262

    • DOI

      10.2169/internalmedicine.55.6014

    • NAID

      130005122603

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Novel SCN10A variants associated with Brugada syndrome2015

    • Author(s)
      Fukuyama M, Ohno S, Makiyama T, Horie M.
    • Journal Title

      Europace

      Volume: 0 Issue: 6 Pages: 0-0

    • DOI

      10.1093/europace/euv078

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A Common Mutation of Long QT Syndrome Type 1 in Japan2015

    • Author(s)
      Itoh H, Dochi K, Shimizu W, Denjoy I, Ohno S, Aiba T, Kimura H, Kato K, Fukuyama M, Hasagawa K, Schulze-Bahr E, Guicheney P, Horie M.
    • Journal Title

      Circulation Journal

      Volume: 79 Issue: 9 Pages: 2026-2030

    • DOI

      10.1253/circj.CJ-15-0342

    • NAID

      130005095315

    • ISSN
      1346-9843, 1347-4820
    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] Rare Single Nucleotide Polymorphism of SCN10A in Patients with Inherited Primary Arrhythmia Syndromes2017

    • Author(s)
      Megumi Fukuyama, Seiko Ohno, Mari Ichikawa, Takeru Makiyama, Minoru Horie
    • Organizer
      第81回日本循環器学会学術集会
    • Place of Presentation
      金沢、石川
    • Year and Date
      2017-03-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] A Novel Transport Refractory Mutation in KCNH2 Identified in Symptomatic Long QT Syndrome Patients.2017

    • Author(s)
      Fukumoto D, Ohno S, Wada Y, Fujii Y, Ichikawa M, Fukuyama M, Itoh H, Matsuura H, Horie M
    • Organizer
      第81回日本循環器学会学術集会
    • Place of Presentation
      金沢、石川
    • Year and Date
      2017-03-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] High prevalence of late onset T in patients with long QT syndrome type 8.2016

    • Author(s)
      Ohno S, Junichi Ozawa, Megumi Fukuyama, Takeru Makiyama, Minoru Horie
    • Organizer
      American Heart Association
    • Place of Presentation
      New Orleans, USA
    • Year and Date
      2016-11-12
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Various ANK2 mutations in patients with inherited primary arrhythmia syndromes.2016

    • Author(s)
      Ichikawa M, Aiba T, Ohno S, Shigemizu D, Ozawa J, Sonoda K, Fukuyama M, Itoh H, Miyamoto Y, Tsunoda T, Makiyama T, Tanaka T, Shimizu W, Horie M
    • Organizer
      9th APHRS Scientific Session.
    • Place of Presentation
      Seoul, Korea
    • Year and Date
      2016-10-12
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Rare Single Nucleotide Polymorphism of SCN10A in Patients with Inherited Primary Arrhythmia Syndromes2016

    • Author(s)
      Megumi Fukuyama, Seiko Ohno, Mari Ichikawa, Takeru Makiyama, Minoru Horie
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-27
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] A novel CACNA1C mutation identified in a patient with atypical Timothy syndrome exerts both loss- and gain-of-function effects on Cav1.2.2016

    • Author(s)
      Ozawa J, Ohno S, Toyoda F, Itoh H, Fukuyama M, Harita T, Makiyama T, Hiroshi Suzuki, Akihiko Saitoh, Matsuura H, Horie M
    • Organizer
      ESC CONGRESS 2016
    • Place of Presentation
      Rome, Italy
    • Year and Date
      2016-08-27
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research
  • [Presentation] AKAP9 mutations identified in young patientswith idiopathic ventricular fibrillation or polymorphic ventricular tachycardia.2015

    • Author(s)
      Sonoda K, Ohno S, Ichikawa M, Fujii Y, Wang Q, Kato K, Fukuyama M, Ito H, Hayashi H, Horie M:
    • Organizer
      ESC CONGRESS 2015
    • Place of Presentation
      London, England
    • Year and Date
      2015-08-29
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] SCN10A polymorphisms are associated with the clinical severity of probands with sodium channelopathies.2015

    • Author(s)
      Fukuyama M, Ohno S, Ichikawa M, Makiyama T, Horie M
    • Organizer
      Europace
    • Place of Presentation
      Milan, Italy
    • Year and Date
      2015-06-21
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Arrhythmogenic ventricular cardiomyopathy with peculiar ventricular aneurysm and TMEM43 mutations.2015

    • Author(s)
      Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Itoh H,Horie M
    • Organizer
      Europace
    • Place of Presentation
      Milan, Italy
    • Year and Date
      2015-06-21
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] desmosome gene mutations cause or modify the Brugada syndrome?2015

    • Author(s)
      Ohno S, Aizawa Y,Fukuyama M,Makiyama T,Kosaki K,Fukuda K,Horie M
    • Organizer
      Heart Rhythm
    • Place of Presentation
      Boston, USA
    • Year and Date
      2015-05-13
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Book] 『循環器内科』第77巻4号345~352頁「特殊なQT延長:Andersen症候群・Timothy症候群」2015

    • Author(s)
      福山 恵
    • Total Pages
      8
    • Publisher
      科学評論社
    • Related Report
      2015 Research-status Report

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

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