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Hereditary aspects of AF, however, remain not fully elucidated. Objective: The purpose of this study was to identify genetic backgrounds contributed to juvenile-onset AF and to define the mechanism. Methods: In 30 consecutive juvenile-onset AF patients (onset age \u003c50 year-old), we screened AF-related genes (KCNQ1, KCNH2, KCNE1-3 and 5, KCNJ2, and SCN5A). We analyzed the function of mutant channels using whole-cell patch-clamp techniques and computer simulations. Results: Among the juvenile-onset AF patients, we identified three mutations (10%), SCN5A-M1875T, KCNJ2-M301K, and KCNQ1-G229D. Since KCNQ1 variant (G229) identified in a 16-year-old boy was novel, we focused on the proband. The G229D-IKs was found to induce a large instantaneous activating component without deactivation after repolarization to –50 mV. In addition, WT/G229D-IKs (WT and mutant co-expression) displayed both instantaneous and time-dependent activating currents. 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  1. 0 資料タイプ別
  2. 02 学位論文
  1. 250 大学院医歯学総合研究科(医)
  2. 60 博士学位論文
  3. 10 博士学位論文

A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels

http://hdl.handle.net/10191/27327
http://hdl.handle.net/10191/27327
89eb714d-ab1d-48fe-a817-2f9259f495a4
名前 / ファイル ライセンス アクション
h25nmk601.pdf 本文 (1.7 MB)
h25nmk601_a.pdf 要旨 (202.0 kB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2014-05-22
タイトル
タイトル A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels
タイトル
言語 en
タイトル A Novel KCNQ1 Missense Mutation Identified in a Patient with Juvenile-Onset Atrial Fibrillation Causes Constitutively Open IKs Channels
言語
言語 eng
キーワード
主題Scheme Other
主題 atrial fibrillation
キーワード
主題Scheme Other
主題 juvenile-onset atrial fibrillation
キーワード
主題Scheme Other
主題 ion channel
キーワード
主題Scheme Other
主題 Iks
キーワード
主題Scheme Other
主題 KCNQ1
資源タイプ
資源 http://purl.org/coar/resource_type/c_46ec
タイプ thesis
その他のタイトル
その他のタイトル 若年性心房細動患者に同定された新たなKCNQ1ミスセンス変異はIKsチャネルを持続的に開口させる
著者 Hasegawa, Kanae

× Hasegawa, Kanae

WEKO 50258

Hasegawa, Kanae

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著者別名
識別子 50259
識別子Scheme WEKO
姓名 長谷川, 奏恵
抄録
内容記述タイプ Abstract
内容記述 Background: Atrial fibrillation (AF) is one of the most common cardiac arrhythmias, and in some patients, the disease is inheritable. Hereditary aspects of AF, however, remain not fully elucidated. Objective: The purpose of this study was to identify genetic backgrounds contributed to juvenile-onset AF and to define the mechanism. Methods: In 30 consecutive juvenile-onset AF patients (onset age <50 year-old), we screened AF-related genes (KCNQ1, KCNH2, KCNE1-3 and 5, KCNJ2, and SCN5A). We analyzed the function of mutant channels using whole-cell patch-clamp techniques and computer simulations. Results: Among the juvenile-onset AF patients, we identified three mutations (10%), SCN5A-M1875T, KCNJ2-M301K, and KCNQ1-G229D. Since KCNQ1 variant (G229) identified in a 16-year-old boy was novel, we focused on the proband. The G229D-IKs was found to induce a large instantaneous activating component without deactivation after repolarization to –50 mV. In addition, WT/G229D-IKs (WT and mutant co-expression) displayed both instantaneous and time-dependent activating currents. Compared to WT-IKs, the tail current densities in WT/G229D-IKs were larger at test potentials between –130 and –40 mV, but smaller at test potentials between 20 and 50 mV. Moreover, WT/G229D-IKs resulted in a negative voltage shift for current activation (−35.2 mV) and slower deactivation. WT/G229D-IKs conducted a large outward current Hasegawa et al. A novel KCNQ1 mutation in Juvenile-Onset AF 4 induced by an atrial action potential waveform, and computer simulation incorporating the WT/G229D-IKs results revealed that the mutation shortened atrial but not ventricular action potential. Conclusion: A novel KCNQ1-G229D mutation identified in a juvenile-onset AF patient altered the IKs activity and kinetics, thereby increasing the arrhythmogenicity to AF.
内容記述
内容記述タイプ Other
内容記述 学位の種類: 博士(医学). 報告番号: 甲第3861号. 学位記番号: 新大院博(医)甲第601号. 学位授与年月日: 平成26年3月24日
内容記述
内容記述タイプ Other
内容記述 Heart Rhythm. 2014, 11(1), 67-75
書誌情報 p. 1-30, 発行日 2014-03-24
出版者
出版者 新潟大学
DOI
識別子タイプ DOI
関連識別子 info:doi/10.1016/j.hrthm.2013.09.073
権利
権利情報 Copyright (C) 2013 Elsevier
著者版フラグ
値 ETD
学位名
学位名 博士(医学)
学位授与機関
学位授与機関名 新潟大学
学位授与年月日
学位授与年月日 2014-03-24
学位授与番号
学位授与番号 13101甲第3861号
学位記番号
内容記述タイプ Other
内容記述 新大院博(医)甲第601号
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