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A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I
http://hdl.handle.net/10069/28864
http://hdl.handle.net/10069/2886472539292-e2b0-4599-95ca-a016dbfcd51d
名前 / ファイル | ライセンス | アクション |
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CAE5_163.pdf (2.8 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2012-09-01 | |||||
タイトル | ||||||
タイトル | A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Death sudden | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Gap junctions | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Genes | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Heart block | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Ion channels | |||||
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 |
Makita, Naomasa
× Makita, Naomasa× Seki, Akiko× Sumitomo, Naokata× Chkourko, Halina× Fukuhara, Shigetomo× Watanabe, Hiroshi× Shimizu, Wataru× Bezzina, Connie R.× Hasdemir, Can× Mugishima, Hideo× Makiyama, Takeru× Baruteau, Alban× Baron, Estelle× Horie, Minoru× Hagiwara, Nobuhisa× Wilde, Arthur A.M.× Probst, Vincent× Le, Marec Hervé× Roden, Dan M.× Mochizuki, Naoki× Schott, Jean-Jacques× Delmar, Mario |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Background-Progressive familial heart block type I (PFHBI) is a hereditary arrhythmia characterized by progressive conduction disturbances in the His-Purkinje system. PFHBI has been linked to genes such as SCN5A that influence cardiac excitability but not to genes that influence cell-to-cell communication. Our goal was to explore whether nucleotide substitutions in genes coding for connexin proteins would associate with clinical cases of PFHBI and if so, to establish a genotype-cell phenotype correlation for that mutation. Methods and Results-We screened 156 probands with PFHBI. In addition to 12 sodium channel mutations, we found a germ line GJA5 (connexin40 [Cx40]) mutation (Q58L) in 1 family. Heterologous expression of Cx40-Q58L in connexin-deficient neuroblastoma cells resulted in marked reduction of junctional conductance (Cx40-wild type [WT], 22.2 ± 1.7 nS, n=14; Cx40-Q58L, 0.56 ± 0.34 nS, n=14; P <0.001) and diffuse localization of immunoreactive proteins in the vicinity of the plasma membrane without formation of gap junctions. Heteromeric cotransfection of Cx40-WT and Cx40-Q58L resulted in homogenous distribution of proteins in the plasma membrane rather than in membrane plaques in ̃ 50% of cells; well-defined gap junctions were observed in other cells. Junctional conductance values correlated with the distribution of gap junction plaques. Conclusions-Mutation Cx40-Q58L impairs gap junction formation at cell-cell interfaces. This is the first demonstration of a germ line mutation in a connexin gene that associates with inherited ventricular arrhythmias and emphasizes the importance of Cx40 in normal propagation in the specialized conduction system. | |||||
書誌情報 |
Circulation: Arrhythmia and Electrophysiology 巻 5, 号 1, p. 163-172, 発行日 2012-02 |
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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.111.967604 | |||||
権利 | ||||||
権利情報 | © 2012 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, 5(1), pp.163-172; 2012 |