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Despite the identifcation of causative genes, including cardiac Na channel (SCN5A), the pathogenesis and molecular epidemiology of familial SSS remain undetermined primarily because of its rarity. Methods and Results-We genetically screened 48 members of 15 SSS families for mutations in several candidate genes and determined the functional properties of mutant Na channels using whole-cell patch clamping. We identifed 6 SCN5A mutations including a compound heterozygous mutation. Heterologously expressed mutant Na channels showed loss-of-function properties of reduced or no Na current density in conjunction with gating modulations. Among 19 family members with SCN5A mutations, QT prolongation and Brugada syndrome were associated in 4 and 2 individuals, respectively. 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Sodium Channelopathy Underlying Familial Sick Sinus Syndrome With Early Onset and Predominantly Male Characteristics
http://hdl.handle.net/10069/34771
http://hdl.handle.net/10069/34771c74ef341-9134-40c0-a571-2c877ecb991a
名前 / ファイル | ライセンス | アクション |
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CAE7_511.pdf (1.4 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2015-01-01 | |||||
タイトル | ||||||
タイトル | Sodium Channelopathy Underlying Familial Sick Sinus Syndrome With Early Onset and Predominantly Male Characteristics | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Sick sinus syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | SCN5A | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | mutation | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | gender | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Abe, Keisuke
× Abe, Keisuke× Machida, Taku× Sumitomo, Naokata× Yamamoto, Hirokazu× Ohkubo, Kimie× Watanabe, Ichiro× Makiyama, Takeru× Fukae, Satoki× Kohno, Masaki× Harrell, Daniel T.× Ishikawa, Taisuke× Tsuji, Yukiomi× Nogami, Akihiko× Watabe, Taichi× Oginosawa, Yasushi× Abe, Haruhiko× Maemura, Koji× Motomura, Hideki× Makita, Naomasa |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Background-Sick sinus syndrome (SSS) is a common arrhythmia often associated with aging or organic heart diseases but may also occur in a familial form with a variable mode of inheritance. Despite the identifcation of causative genes, including cardiac Na channel (SCN5A), the pathogenesis and molecular epidemiology of familial SSS remain undetermined primarily because of its rarity. Methods and Results-We genetically screened 48 members of 15 SSS families for mutations in several candidate genes and determined the functional properties of mutant Na channels using whole-cell patch clamping. We identifed 6 SCN5A mutations including a compound heterozygous mutation. Heterologously expressed mutant Na channels showed loss-of-function properties of reduced or no Na current density in conjunction with gating modulations. Among 19 family members with SCN5A mutations, QT prolongation and Brugada syndrome were associated in 4 and 2 individuals, respectively. Age of onset in probands carrying SCN5A mutations was signifcantly less (mean±SE, 12.4±4.6 years; n=5) than in SCN5A-negative probands (47.0±4.6 years; n=10; P<0.001) or nonfamilial SSS (74.3±0.4 years; n=538; P<0.001). Meta-analysis of SSS probands carrying SCN5A mutations (n=29) indicated profound male predominance (79.3%) resembling Brugada syndrome but with a considerably earlier age of onset (20.9±3.4 years). Conclusions-The notable pathophysiological overlap between familial SSS and Na channelopathy indicates that familial SSS with SCN5A mutations may represent a subset of cardiac Na channelopathy with strong male predominance and early clinical manifestations. | |||||
書誌情報 |
Circulation: Arrhythmia and Electrophysiology 巻 7, 号 3, p. 511-517, 発行日 2014-06 |
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出版者 | ||||||
出版者 | American Heart Association, Inc. | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 19413149 | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 19413084 | |||||
DOI | ||||||
関連タイプ | isVersionOf | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1161/CIRCEP.113.001340 | |||||
権利 | ||||||
権利情報 | c 2014 American Heart Association, Inc. | |||||
著者版フラグ | ||||||
出版タイプ | AM | |||||
出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Circulation: Arrhythmia and Electrophysiology, 7(3), pp.511-517; 2014 |