遺伝性不整脈発症の分子基盤に関する統合的研究

2011 Fiscal Year Annual Research Report

• Project/Area Number: 23390209
• Research Institution: Shiga University of Medical Science
• Principal Investigator: 堀江 稔 滋賀医科大学, 医学部, 教授 (90183938)
• Co-Investigator(Kenkyū-buntansha): 芦原 貴司 滋賀医科大学, 医学部, 助教 (80396259)
• Keywords: 分子心臓病態学

Research Abstract

遺伝性不整脈は、禁煙、ヒト・ゲノム・ブロジェクトをはじめとする分子遺伝学の急速な進歩により明らかとされた疾患概念である。心筋イオンチャネルやその関連蛋白の遺伝子の多種多様な変異により招来されるチャネル機能の障害に伴う病気である。我々は1996年(最初のQT延長症候群関連遺伝子が報告された翌年)から、倫理委員会の承認を受け、患者さんよりインフォームド・コンセントを得て、臨床像とゲノムDNAの集積を行っている。これまでの500例近い遺伝子診断が出来たQT延長症候群を対象に、本年度は、KCNJ2の変異(LQT7の原因)について、遺伝子組み換え法による変異株の作成を行い、パッチクランブ法でその機能解析を行うことにより、新たなメカニズムにより、LQT7(あるいはAndersen-Tawil症候群)の病像が大きく修飾されることを報告した(Doi et al,2011)。また、同じ遺伝子KCNJ2のgain-of functionが、QT延長ではなく逆にQT短縮を起こすことを報告したが、これは世界で2つ目のレポートとなった(Hattor et al,2012)。LQT2症例では、LQT1に比べてβブロッカーが有効でない症例に遭遇する率が高いが、我々は遺伝子診断でLQT2と確定できた133例について、βブロッカーの有効性を検討したところ、ブロブラノロールのようなβ選択的ブロッカーよりも、αβブロッカーであるカルベジロールのほうが、心イベントを抑制することを発見した。その機序を含めて検討した(Kimuraeta1,2011)。LQT1の高頻度に同定されるスブライシング機構を障害する変異について、分子生物学的アブローチ(minigene,RT-PCR,細胞内imagingなど)を用いて、その発症メカニズムを調べて報告した(Tsuji et al,2011)。さらに現在、QT延長症候群患者の血液からiPS細胞を作成し疾患特異的心筋細胞に分化させて、このスブライシング異常が実際にヒト細胞で起こりえるかどうかを検証している。最後に実験結果を統合的に説明するためコンピュータ・シミュレーションによる検証を予定している。その予備的報告を行った(Ashihara et al,2012)。

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

当初の研究計画書に記載したとおり、ゲノムから蛋白そして疾患の発症まで、大きく3つのステージ、すなわちpre-translational, post-translationalおよび統合するsystem biologyであるが、すべてにおいて研究の進展が見られた。

Strategy for Future Research Activity

当初の研究計画書に従い、Exonic splicing enhance内の変異についての研究は、さらにヒト心筋細胞(ips細胞由来)を用いて、調べる共に、今後、この心筋細胞を用いたパッチクランプによるイオンチャネル解析を進める予定である。研究を遂行する上、ips細胞に関するノウハウが必須であり、研究者間での情報交換も進展させる予定である。現在、上記のテーマでは慶応大学循環器内科の福田研究室と共同での検討を行っている。

Research Products

• [Journal Article] Dynamicity of the J wave in idiopathic ventricular fibrillation with a special reference to pause-dependent augmentation of the J wave (2012)
  • Author(s): Aizawa Y, Sato A, Watanabe H, Chinushi M, Furushima H, Horie M, Kaneko Y, Imaizumi T, Okubo K, Watanabe I, Shinozaki T, Aizawa Y, Fukuda, Joo K, Haissaguerre M
  • Journal Title: Journal of American College of Cardiology Volume: (in press)
  • Peer Reviewed
• [Journal Article] Andersen-Tawil Syndrome Associated With Aborted Sudden Cardiac Death : Atrial Pacing Was Effective for Ventricular Arrhythmias (2012)
  • Author(s): Kuramoto Y, Furukawa Y, Yamada T, Okuyama Y, Horie M, Fukunami M
  • Journal Title: AJMS Volume: (in press)
  • Peer Reviewed
• [Journal Article] Pharmachotherapeutic determinants for QTc interval prolongation in Japanese patients with mood disorder (2012)
  • Author(s): Okayasu H, Ozeki Y, Fujii K, Takano Y, Saeki Y, Hori H, Horie M, Higuchi T, Kunugi H, Shimoda K
  • Journal Title: Pharmacopsychiatry Volume: (in press)
  • Peer Reviewed
• [Journal Article] The role of fibroblasts in complex fractionated electrograms during persistent/permanent atrial fibrillation : implications for electrogram-based catheter ablation (2012)
  • Author(s): Ashihara T, Haraguchi R, Nakazawa K, Namba T, Ikeda T, Nakazawa Y, Ozawa T, Ito M, Horie M, Trayanova NA
  • Journal Title: Circulation Research Volume: 110(2) Pages: 275-284
  • DOI: 10.1161/CIRCRESAHA.111.255026
  • Peer Reviewed
• [Journal Article] A novel gain-of-function KCNJ2 mutation associated with short QT syndrome impairs inward rectification of Kir2.1 currents (2012)
  • Author(s): Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Nishio Y, Sasaki K, Itoh H, Yokode M, Kita T, Horie M, Kimura T
  • Journal Title: Cardiovasc Res Volume: 93(4) Pages: 666-673
  • DOI: 10.1161/CIRCGENETICS.110.958157
  • Peer Reviewed
• [Journal Article] Regulatory mechanisms underlying the modulation of GIRK1/GIRK4 heteromeric channels by P2Y receptors (2012)
  • Author(s): Wu J, Ding WG, Matsuura H, Horie M
  • Journal Title: Pflugers Arch Volume: 463(4) Pages: 625-633
  • Peer Reviewed
• [Journal Article] A connexin40 mutation associated with a malignant variant of progressive familial heart block type I (2012)
  • Author(s): Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AA, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M
  • Journal Title: Circulation Arrhythmia and Electrophysiology Volume: 5 Pages: 163-172
  • DOI: 10.1161/CIRCEP.111.967604
  • Peer Reviewed
• [Journal Article] Regional cooling facilitates termination of spiral-wave reentry through unpinning of rotors in rabbit hearts (2012)
  • Author(s): Yamazaki M, Honjo H, Ashihara T, Harada M, Sakuma I, Nakazawa K, Trayanova N, Horie M, Kalifa J, Jalife J, Kamiya K, Kodama I
  • Journal Title: Heart Rhythm Volume: 9 Pages: 109-114
  • DOI: 10.1016/j.hrthm.2011.08.013
  • Peer Reviewed
• [Journal Article] Successful catheter ablation of bidirectional ventricular premature contractions triggering ventricular fibrillation in catecholaminergic polymorphic ventricular tachycardia with RyR2 mutation (2012)
  • Author(s): Kaneshiro T, Naruse Y, Nogami A, Tada H, Yoshida K, Sekiguchi Y, Murakoshi N, Kato Y, Horigome H, Kawamura M, Horie M, Aonuma K
  • Journal Title: Circulation Arrhythmia and Electrophysiology Volume: 5 Pages: e14-17
  • DOI: 10.1161/CIRCEP.111.966549
  • Peer Reviewed
• [Journal Article] Clinical and electrocardiographic characteristics of patients with short QT interval in a large hospital-based population (2012)
  • Author(s): Miyamoto A, Hayashi H, Yoshino T, Kawaguchi T, Taniguchi A, Ito H, Sugimoto Y, Ito M, Makiyama T, Xue JQ, Murakami Y, Horie M
  • Journal Title: Heart Rhythm Volume: 9(1) Pages: 66-74
  • DOI: 10.1016/j.hrthm.2011.08.016
  • Peer Reviewed
• [Journal Article] Reciprocal control of hERG stability by Hsp70 and Hsc70 with implication for restoration of LQT2 mutant stability (2011)
  • Author(s): Li P, Ninomiya H, Kurata Y, Kato M, Miake J, Yamamoto Y, Igawa O, Nakai A, Higaki K, Toyoda F, Wu J, Horie M, Shirayoshi Y, Hiraoka M, Hisatome I
  • Journal Title: Circulation Research Volume: 108 Pages: 458-468
  • DOI: 10.1161/CIRCRESAHA.110.227835
  • Peer Reviewed
• [Journal Article] Risk determinants in individuals with a spontaneous type 1 Brugada ECG (2011)
  • Author(s): Miyamoto A, Hayashi H, Makiyama T, Yoshino T, Mizusawa Y, Sugimoto Y, Ito M, Xue JQ, Murakami Y, Horie M
  • Journal Title: Circulation Journal Volume: 75 Pages: 844-851
  • DOI: 10.1253/circj.CJ-10-0903
  • Peer Reviewed
• [Journal Article] KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation (2011)
  • Author(s): Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T, Shizuta S, Hattori T, Miyamoto A, Naiki N, Hancox JC, Matsuura H, Horie M
  • Journal Title: Circulation Arrhythm Electrophysiol Volume: 4(3) Pages: 352-361
  • DOI: 10.1161/CIRCEP.110.959619
  • Peer Reviewed
• [Journal Article] A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome (2011)
  • Author(s): Doi T, Makiyama T, Morimoto T, Haruna Y, Tsuji K, Ohno S, Akao M, Takahashi Y, Kimura T, Horie M
  • Journal Title: Circulation Cardiovascular Genetics Volume: 4 Pages: 253-260
  • DOI: 10.1161/CIRCGENETICS.110.958157
  • Peer Reviewed
• [Journal Article] Phenotypical manifestations of mutations in genes encoding subunits of cardiac potassium channels (2011)
  • Author(s): Shimizu W, Horie M
  • Journal Title: Circulation Research Volume: 109 Pages: 97-109
  • DOI: 10.1161/CIRCRESAHA.110.224600
  • Peer Reviewed
• [Journal Article] Identification and functional characterization of KCNQ1 mutations around the exon7-intron7 junction affecting the splicing process (2011)
  • Author(s): Tsuji K, Akao M, Ishii TM, Ashihara T, Makiyama T, Ohno S, Toyoda F, Nishio Y, Sakaguchi T, Matsuura H, Horie M
  • Journal Title: Biochemi Biophys Acta-Molecular Basis of Disea Volume: 1812 Pages: 1452-1459
  • DOI: 10.1016/j.bbadis.2011.07.011
  • Peer Reviewed
• [Journal Article] Heritability of early repolarization : A population-based study (2011)
  • Author(s): Hayashi H, Horie M
  • Journal Title: Circulation Cardiovascular Genetics Volume: 4(5) Pages: e20
  • DOI: 10.1161/CIRCEP.111.966549
  • Peer Reviewed
• [Journal Article] Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization (2011)
  • Author(s): Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, Makiyama T, Nagao S, Yagihara N, Takehara N, Kawamura Y, Sato A, Okamura K, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Kimura A, Maemura K, Watanabe I, Kamakura S, Horie M, Aizawa Y, Shimizu W, Makita N
  • Journal Title: Circulation : Arrhythmia and Electrophysiology Volume: 4(6) Pages: 874-881
  • DOI: 10.1161/CIRCEP.111.963983
  • Peer Reviewed
• [Journal Article] Carvedilol, a non-selective β-with α1-blocker is effective in long QT syndrome type2 (2011)
  • Author(s): Kimura H, Mizusawa Y, Itoh H, Miyamoto A, Kawamura M, Kawaguchi T, Naiki N, Oka Y, Ohno S, Makiyama T, Ito M, Horie M
  • Journal Title: Journal of Arrhythmia Volume: 27 Pages: 324-331
  • DOI: 10.4020/jhrs.27.324
  • Peer Reviewed
• [Journal Article] Remission of abnormal conduction and repolarization in the right ventricle after chemotherapy in patients with anterior mediastinal tumor (2011)
  • Author(s): Miyamoto A, Hayashi H, Ito M, Horie M
  • Journal Title: J Cardiovasc Electrophysiol Volume: 22 Pages: 350
  • DOI: 10.1111/j.1540-8167.2010.01898.x
  • Peer Reviewed
• [Journal Article] ペースメーカー植え込み同胞霊位認められた新たなLamin A/C変異 (2011)
  • Author(s): 佐野幹、渡邊栄一、牧山武、内山達司、祖父江嘉洋、奥田健太郎、山本真由美、堀江稔、尾崎行男
  • Journal Title: 心電図 Volume: 3 Pages: 9
  • DOI: 10.5105/jse.31.18
  • Peer Reviewed
• [Journal Article] 遺伝性不整脈疾患とシミュレーション (2011)
  • Author(s): 伊藤英樹、堀江稔、井本敬二
  • Journal Title: 不整脈+PLUS Volume: 3 Pages: 9
• [Journal Article] KCN]2変異を伴うAndersen-Tawil症候群の神経生理所見 (2011)
  • Author(s): 定翼、国分則人、堀江稔、阿部百佳、駒ヶ嶺朋子、平田幸一
  • Journal Title: 臨床神経生理学 Volume: 39(1) Pages: 18-23
• [Journal Article] 循環器疾患における遺伝的背景と発症機序理解のための多面的アプローチ (2011)
  • Author(s): 堀江稔
  • Journal Title: 循環器内科 Volume: 70 Pages: 421-422
• [Journal Article] スプライシング異常と循環器疾患 (2011)
  • Author(s): 脇坂啓子、堀江稔
  • Journal Title: 循環器内科 Volume: 70 Pages: 523-529
• [Presentation] Short QT and early repolarization syndromes (2011)
  • Author(s): Horie M
  • Organizer: ICPES 2011
  • Place of Presentation: Athens, Greece
  • Year and Date: 20111211-20111214
• [Presentation] Basic characteristics of Brugada syndrome in Japan (2011)
  • Author(s): Horie M
  • Organizer: ICPES 2011
  • Place of Presentation: Athens, Greece
  • Year and Date: 20111211-20111214
• [Presentation] Clinical and genetic characterization of Japanese patients with arrhythmogenic right ventricular cardiomyopathy (2011)
  • Author(s): Ohno S, Nishio Y, Nagaoka I, Miyamoto A, Kimura H, Itoh H, Makiyama T, Horie M
  • Organizer: ICPES 2011
  • Place of Presentation: Athens, Greece
  • Year and Date: 20111211-20111214
• [Presentation] Clinical, electrocardiographic, and genetic characteristics of patients with idiopathic ventricular fibrillation associated with early repolarization (2011)
  • Author(s): Watanabe H, Nogami A, Ohkubo K, Makiyama T, Hayashi, Shimada T, Nagao S, Yagihara N, Takehara N, Kawamura Y, Sato A, Okamura K, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Maemura K, Horie M, Watanabe I, Aizawa Y, Makita N
  • Organizer: AHA Scientific Sessions 2011
  • Place of Presentation: Orlando, Florida, U.S.A.
  • Year and Date: 20111112-20111116
• [Presentation] Clinical differences between KCNH2 and SCN5A mutation carriers with Brugada syndrome and Brugada-like ECG patients in Japan (2011)
  • Author(s): Ohno S, Miyamoto A, T Makiyama, Itoh H, Horie M
  • Organizer: AHA Scientific Sessions 2011
  • Place of Presentation: Orlando, Florida, U.S.A.
  • Year and Date: 20111112-20111116
• [Presentation] Mutations of KCNE gene family in inherited arrhythmia syndromes. Special Symposium (2011)
  • Author(s): Horie M, Ohno S, Wu J, Zankov DP, Toyoda F, Ding WG, Matsuura H
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Long QT Syndromes are heterogeneous disease entities presenting not only QT prolongation but multiple phenotypes Cases with compound heterozygous mutations (2011)
  • Author(s): Horie M, Itoh H, Shimizu W, Hayashi K, Ohno S, Makiyama T, Yamagishi M, Kamakura S
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Renin-Angiotensin-Aldosterone system and atrial fibrillation (2011)
  • Author(s): Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Clinical and genetic features of Japanese patient with congenital long QT syndrome (2011)
  • Author(s): Makimoto H, Horie M, Ogawa S, Aizawa Y, Ohe T, Yamgagishi M, Makita N, Makiyama T, Aiba T, Kamakura S, Miyamoto Y, Shimizu W
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] A weak dominant negative mutation of KCNQ1-G269S affects PKA-Mediated up-regulation of IKs channels and causes adrenergic triggered long QT syndrome (2011)
  • Author(s): Wu J, Naiki N, Ding WG, Matsuura H, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Prognostic significance of J wave in patients who underwent device therapy for ventricular defibrillation (2011)
  • Author(s): Naiki N, Hayashi H, Miyamoto A, Sugimoto Y, Ito M, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Importance of long-term follow-up after pulmonary vein isolation : A study using event-ECG monitors (2011)
  • Author(s): Nakazawa Y, Ashihara T, Miyamoto A, Ozawa T, Sugimoto Y, Ito M, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Ventricular fibrillation triggered during radiofrequency energy delivery for verapamil-sensitive idiopathic left ventricular tachycardia (2011)
  • Author(s): Ozawa T, Ito M, Nakazawa Y, Ashihara T, Miyamoto A, Sugimoto Y, Yao T, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Clinical features and genetic basis of progressive cardiac conduction defect : Japanese PCCD registry (2011)
  • Author(s): Makita N, Makiyama T, Nogami A, Watanabe H, Seki A, Sumitomo N, Shimizu W, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Mechanisms of complex fractionated electrogram-targeted ablation in a model for chronic atrial fibrillation (2011)
  • Author(s): Ashihara T, Haraguchi R, Inada S, Nakazawa K, Ozawa T, Nakazawa Y, Ito M, Horie M, Trayanova N
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Mutation analysis of the KCNJ8 gene in Japanese patients with J-wave syndrome and idiopathic ventricular fibrillation (2011)
  • Author(s): Wang Q, Ohno S, Makiyama T, Kimura H, Naiki N, Kawamura M, Kato K, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] New diagnostic test for arrhythmogenic right ventricular cardiomyopathy (2011)
  • Author(s): Nakashima T, Ohkusa T, Yoshida M, Yamada J, Okamura T, Ueyama T, Miura T, Shimizu A, Horie M, Matsuzaki M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Relationship between nonspecific electrocardiographic abnormalities and left ventricular performance in coronary atherosclerosis (2011)
  • Author(s): Taniguchi A, Hayashi H, Miyamoto A, Yoshino T, Kawaguchi T, Naiki N, Nakae I, Matsumoto T, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Biphasic P wave in lead II is a novel electrophysiologic marker for atrial fibrillation (2011)
  • Author(s): Yoshino T, Hayashi H, Miyamoto A, Taniguchi A, Kawaguchi T, Naiki N, Sugimoto Y, Ito M, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Mutations of the cardiac ryanodine Recepter (RyR2) gene in catecholaminergic polymorphic ventricular tachycardia (2011)
  • Author(s): Kawamura M, Nagaoka I, Kenichi, Nishio Y, Itoh H, Kimura H, Miyamoto A, Mizusawa Y, Jito Y, Ishida K, Ito M, Makiyama T, Ohno S, Sumitomo N, Oyama K, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Site-specific arrhythmogenesis in structurally normal heart of non-Brugada patients with ventricular arrhythmias originating from ventricular outflow tract (2011)
  • Author(s): Ozawa T, Ito M, Itoh H, Nakazawa Y, Sugimoto Y, Yao T, Miyamoto A, Ashihara T, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Recent advancement of treatment in catecholaminergic polymorphic ventricular tachycardia (2011)
  • Author(s): Sumitomo N, Shimizu W, Horigome H, Nakamura Y, Arakaki Y, Sakurada H, Watanabe H, Nishizaki H, Kamakura S, Horie M, Hiraoka M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Reciprocal control of hERG stability by hsp70 and hsc70 with implication for restoration of LQT2 mutant stability (2011)
  • Author(s): Li P, Ninomiya H, Kurata Y, Kato M, Miake J, Yamamoto Y, Igawa O, Nakai A, Higaki K, Toyoda F, Wu J, Horie M, Matsuura H, Yoshida A, Shirayoshi Y, Hiraoka M, Hisatome I
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] KCNE5 variants are novel modulators of brugada syndrome and idiopathic ventri-cular fibrillation (2011)
  • Author(s): Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T, Shizuta S, Hattori T, Miyamoto A, Naiki N, Matsuura H, Horie M
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Mutations of KCNE gene family in inherited arrhythmia syndromes (2011)
  • Author(s): Horie M, Ohno S, Wu J, Zankov DP, Toyoda F, Ding WG, Matsuura H
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Long QT syndromes are heterogeneous disease entities presenting not only QT prolongation but multiple phenotypes-cases with compound heterozygous mutations (2011)
  • Author(s): Horie M, Itoh H, Shimizu W, Hayashi K, Ohno S, Makiyama T, Yamagishi M, Kamakura S
  • Organizer: APHRS2011 & 26th JHRS 28th JSE合同学会
  • Place of Presentation: 福岡
  • Year and Date: 20110918-20110922
• [Presentation] Phenotype variability in patients carrying KCNJ2 mutations (2011)
  • Author(s): Kimura H, Zhou J, Itoh H., Mizusawa Y, Miyamoto A, Kawamura M, Makiyama T, Ito M, Matsuura H, Horie H
  • Organizer: ESC Congress 2011
  • Place of Presentation: Paris, France
  • Year and Date: 20110827-20110831
• [Presentation] Over-expression of heterozygous KCNJ2-M301K channels, identified in a patient with short QT syndrome, shortened action potential durations in neonatal rat ventricular myocytes (2011)
  • Author(s): Hattori T, Makiyama T, Akao M, Ehara E, Ohno S, Iguchi M, Sasaki K, Itoh H, Horie M, Kimura T
  • Organizer: ESC Congress 2011
  • Place of Presentation: Paris, France
  • Year and Date: 20110827-20110831
• [Presentation] Seasonal and circadian distributions of occurrence of cardiac events in genotyped patients with congenital long QT syndrome (2011)
  • Author(s): Takigawa M, Kawamura M, Noda T, Yamada Y, Okamura H, Satomi K, Aiba T, Aihara N, Kamakura S, Sakaguchi T, Mizusawa Y, Itoh H, Horie M, Shimizu W
  • Organizer: 第75回日本循環器学会総会・学術集会
  • Place of Presentation: 横浜
  • Year and Date: 20110803-20110804
• [Presentation] What influences β-blocker resistance for secondary prevention of cardiac events in patients with congenital long QT syndrome (2011)
  • Author(s): Makimoto H, Horie M, Ogawa S, Aizawa Y, Ohe T, Kusano K, Yamagishi M, Makita N, Tanaka T, Makiyama T, Yoshinaga M, Hagiwara N, Sumitomo N, Itoh H, Yamada Y, Okamura, Noda T, Aiba T, Kamakura S, Miyamoto Y, Shimizu W
  • Organizer: 第75回日本循環器学会総会・学術集会
  • Place of Presentation: 横浜
  • Year and Date: 20110803-20110804
• [Presentation] Establishment of disease-specific induced pluripotent stem cells from a patient with Lamin A/C-related cardiomyopathy (2011)
  • Author(s): Makiyama T, Yoshida Y, Sasaki K, Shizuta S, Doi T, Hattori T, Horie M, Kimura T
  • Organizer: 第75回日本循環器学会総会・学術集会
  • Place of Presentation: 横浜
  • Year and Date: 20110803-20110804
• [Presentation] Genotype-phenotype correlation in Japanese patients with andersen-tawil syndrome (2011)
  • Author(s): Kimura H, Zhou J, Itoh H, Mizusawa Y, Miyamoto A, Jitoh Y, Kawamura M, Sakaguchi T, Nishio Y, Ding WG, Makiyama T, Ito M, Matsuura H, Horie M
  • Organizer: 第75回日本循環器学会総会・学術集会
  • Place of Presentation: 横浜
  • Year and Date: 20110803-20110804
• [Presentation] Prognostic implications of progressive cardiac conduction disease (2011)
  • Author(s): Kawaguchi T, Hayashi H, Miyamoto A, Yoshino T, Taniguchi A, Sugimoto Y, Ito M, Horie M
  • Organizer: 第75回日本循環器学会総会・学術集会
  • Place of Presentation: 横浜
  • Year and Date: 20110803-20110804
• [Presentation] Genetics and Molecular mechanisms of ventricular tachyarrhythmia (2011)
  • Author(s): Horie M
  • Organizer: Taiwan Society of Cardiology-2011 Annual Meeting
  • Place of Presentation: Taipei, Taiwan(招待講演)
  • Year and Date: 20110514-20110515
• [Presentation] Challenging ECG of sudden cardiac death (2011)
  • Author(s): Horie M
  • Organizer: Taiwan Society of Cardiology-2011 Annual Meeting
  • Place of Presentation: Taipei, Taiwan(招待講演)
  • Year and Date: 20110514-20110515
• [Presentation] 家族性突然死症候群の診断と治療 (2011)
  • Author(s): 堀江稔
  • Organizer: 第112回日本循環器学会近畿地方会
  • Place of Presentation: 京都
  • Year and Date: 2011-11-27
• [Presentation] 心臓性突然死を巡る最近の話題-イオンチャネル病- (2011)
  • Author(s): 堀江稔
  • Organizer: 第28回循環器診療セミナーin西宮
  • Place of Presentation: 兵庫(招待講演)
  • Year and Date: 2011-11-02
• [Presentation] 薬剤誘発性QT延長症候群と遺伝的背景(薬剤感受性) (2011)
  • Author(s): 堀江稔
  • Organizer: 瀬戸内国際臨床試験カンファレンス
  • Place of Presentation: 愛媛(招待講演)
  • Year and Date: 2011-10-15
• [Presentation] 学校検診にて発見された早期再分極症候群(J wave syndrome)の疑われる一例 (2011)
  • Author(s): 岡川浩人、鹿野真由美、西山敬三、松井俊樹、山岡修、大村具子、伊藤誠、堀江稔
  • Organizer: 第70回滋賀県循環器疾患研究会
  • Place of Presentation: 滋賀
  • Year and Date: 2011-06-11
• [Presentation] 遺伝性不整脈の診断と治療におけるiPS細胞利用の可能性 (2011)
  • Author(s): 堀江稔
  • Organizer: iPSアカデミアジャパン研修会
  • Place of Presentation: 京都(招待講演)
  • Year and Date: 2011-05-20
• [Presentation] 不整脈のUp To Date (2011)
  • Author(s): 堀江稔
  • Organizer: 循環器合同エキスパートミーティング
  • Place of Presentation: 岡山(招待講演)
  • Year and Date: 2011-04-16
• [Presentation] 家族性QT延長症候群の遺伝診断と治療 (2011)
  • Author(s): 堀江稔
  • Organizer: 第5回愛媛発達心臓病研究会
  • Place of Presentation: 愛媛(招待講演)
  • Year and Date: 2011-04-09
• [Book] 別冊医学のあゆみここまで進んだ不整脈研究の最新動向QT短縮症候群 (2011)
  • Author(s): 堀江稔
  • Total Pages: 105-108
  • Publisher: 医歯薬出版株式会社
• [Book] Atrial Fibrillation-Basic Research and Clinical Applications Prosnostic value of P wave for developing atrial fibrillation (2011)
  • Author(s): Hayashi H, Horie M
  • Total Pages: 189-198
  • Publisher: INTECH
• [Book] 最新パッチクランプ実験技術法15章細胞内灌流法 (2011)
  • Author(s): 堀江稔
  • Total Pages: 145-152
  • Publisher: 吉岡書店
• [Remarks]
  • URL: http://www.shiga-med.ac.jp/~hqmedl/main.html