運動ストレスによるＱＴ延長症候群患者の不整脈発症メカニズムの解明

2014 Fiscal Year Annual Research Report

• Project/Area Number: 24591575
• Research Institution: Shiga University of Medical Science
• Principal Investigator: 大野 聖子 滋賀医科大学, 学内共同利用施設等, その他 (20610025)
• Co-Investigator(Kenkyū-buntansha): 堀江 稔 滋賀医科大学, 医学部, 教授 (90183938)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: 先天性QT延長症候群 / 運動負荷

Outline of Annual Research Achievements

先天性QT延長症候群の変異の違いによる、運動時の症状の有無について研究をすすめた。前年度までの研究に引き続き、個々の症例についての臨床像を改めて評価すると、これまで先天性QT延長症候群と診断していた群に、運動時失神を来す同様の疾患であるカテコラミン感受性多型性心室頻拍（CPVT）が隠れていることが明らかになった。そこで、QT延長症候群のみならず、CPVTの評価も必要になってきたため、次の研究につなげていく予定である。
本研究においては、多くの先天性QT延長症候群の変異を同定し、疾患との関連を明らかにすることができた。

Research Products

• [Journal Article] Novel SCN10A variants associated with Brugada syndrome (2015)
  • Author(s): Fukuyama M, Ohno S, Makiyama T, Horie M.
  • Journal Title: Europace Volume: 0 Pages: 0
  • DOI: 10.1093/europace/euv078
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A Molecular Mechanism for Adrenergic-Induced Long QT Syndrome. (2014)
  • Author(s): Wu J, Naiki N, Ding WG, Ohno S, Kato K, Zang WJ, Delisle BP, Matsuura H, Horie M.
  • Journal Title: J Am Coll Cardiol Volume: 63 Pages: 819 827.
  • DOI: 10.1016/j.jacc.2013.08.1648
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Gain-of-function KCNH2 mutations in patients with Brugada syndrome. (2014)
  • Author(s): Wang Q, Ohno S, Ding WG, Fukuyama M, Miyamoto A, Itoh H, Makiyama T, Wu J, Bai J, Hasegawa K, Shinohara T, Takahashi N, Shimizu A, Matsuura H, Horie M.
  • Journal Title: J Cardiovasc Electrophysiol. Volume: 25 Pages: 522 533
  • DOI: 10.1111/jce.12361
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction (2014)
  • Author(s): Ohno, S. Omura, M. Kawamura, M. Kimura, H. Itoh, H. Makiyama, T. Ushinohama, H. Makita, N. Horie, M.
  • Journal Title: Europace Volume: 16 Pages: 1646 1654
  • DOI: 10.1093/europace/eut382
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels. (2014)
  • Author(s): Hasegawa K, Ohno S, Ashihara T, Itoh H, Ding WG, Toyoda F, Makiyama T, Aoki H, Nakamura Y, Delisle BP, Matsuura H, Horie M.
  • Journal Title: Heart Rhythm Volume: 11 Pages: 67 75
  • DOI: 10.1016/j.hrthm.2013.09.073
  • Peer Reviewed / Acknowledgement Compliant
• [Presentation] Do desmosome gene mutations cause or modify the Brugada syndrome? (2015)
  • Author(s): S Ohno, Y Aizawa, M Fukuyama, T Makiyama, K Kosaki, K Fukuda, M Horie
  • Organizer: Heart Rhythm Society Meeting 2015
  • Place of Presentation: Boston, USA
  • Year and Date: 2015-05-13 – 2015-05-16
• [Presentation] Usefulness of benchtop next generation sequencer in research of inherited primary arrhythmia syndromes (2015)
  • Author(s): S Ohno, M Fukuyama, H Itoh, T Makiyama, M Horie
  • Organizer: 第79回日本循環器病学会
  • Place of Presentation: 大阪、日本
  • Year and Date: 2015-04-24 – 2015-04-26
• [Presentation] Young long QT syndrome patients with KCNH2 mutations have late onset but severe symptoms (2014)
  • Author(s): J Ozawa, S Ohno, H Itoh, T Makiyama, M Horie
  • Organizer: American Heart Association Meeting 2015
  • Place of Presentation: Chicago, USA
  • Year and Date: 2014-11-10 – 2014-11-19
• [Presentation] WHICH GENETIC TESTS:SINGLE GENES, PANELS OR GENOMES? (2014)
  • Author(s): S Ohno
  • Organizer: Asia Pacific Heart Rhythm Society Meeting 2014
  • Place of Presentation: Delhi, India
  • Year and Date: 2014-10-29 – 2014-11-01
  • Invited
• [Presentation] ARRHYTHMOGENICRIGHTVENTRICULARCARDIOMYOPATHY (2014)
  • Author(s): S Ohno
  • Organizer: Asia Pacific Heart Rhythm Society Meeting 2014
  • Place of Presentation: Delhi, India
  • Year and Date: 2014-10-29 – 2014-11-01
  • Invited
• [Presentation] Identification of latent mutations in primary inherited arrhythmia syndromes using benchtop next generation sequencer. Benchtop Next Generation Sequencer Has Facilitated the Genetic Analysis for Inherited Arrhythmias (2014)
  • Author(s): S Ohno, M Fukuyama, H Itoh, T Makiyama, M Horie
  • Organizer: European Society of Cardiology Meeting 2015
  • Place of Presentation: Barceｌona, Spain
  • Year and Date: 2014-08-30 – 2014-09-03
• [Presentation] Gender differences in the inheritance mode of RYR2 mutations in catecholaminergic polymorphic ventricular tachycardia patients (2014)
  • Author(s): S. Ohno, M. Kawamura, K. Hasegawa, M. Horie
  • Organizer: European Society of Cardiology Meeting 2015
  • Place of Presentation: Barceｌona, Spain
  • Year and Date: 2014-08-30 – 2014-09-03
• [Presentation] High frequency of ANK2 mutations in patients with non-genotyped primary inherited arrhythmia syndromes. (2014)
  • Author(s): S Ohno, M Fukuyama, H Itoh, T Makiyama, M Horie
  • Organizer: European Society of Cardiology Meeting 2015
  • Place of Presentation: Barceｌona, Spain
  • Year and Date: 2014-08-30 – 2014-09-03
• [Presentation] Mosaic KCNJ2 Mutation in Andersen–Tawil syndrome: Targeted Deep Sequencing is Useful for the Detection of Mosaicism (2014)
  • Author(s): K Hasegawa, S Ohno, H Kimura, H Itoh, T Makiyama, Y Yoshida, M Horie
  • Organizer: Heart Rhythm Society Meeting 2014
  • Place of Presentation: San Francisco, USA
  • Year and Date: 2014-05-07 – 2014-05-10