Human KCNQ1 S140G mutation is associated with atrioventricular blocks
文献类型：期刊论文
| 作者 | Yang, YQ; Liu, Y; Dong, XJ; Kuang, Y; Lin, J; Su, XY; Peng, LY; Jin, QF; He, YS; Liu, B |
| 刊名 | HEART RHYTHM
 |
| 出版日期 | 2007 |
| 卷号 | 4期号:5页码:611-618 |
| 关键词 | KCNQ1 mutation transgenic animal models atrioventricular blocks atrial fibrillation |
| 通讯作者 | Chen, YH (reprint author), Tongji Univ, Inst Med Genet, 389 Xin Cun Rd, Shanghai 200065, Peoples R China.,drchen@public7.sta.net.cn |
| 英文摘要 | BACKGROUND We recently reported that an S140G mutation in human KCNQ1, an alpha subunit of potassium channels, was involved in the pathogenesis of familial atrial fibrillation (AF), but it is not clear whether the mutation is associated with other cardiac arrhythmias. OBJECTIVE The purpose of this study was to further explore the association of the KCNQ1 S140G mutation with cardiac arrhythmias. METHODS We produced a transgenic mouse model with myocardium-specific expression of the human KCNQ1 S140G mutation under the control of an a-cardiac myosin heavy chain promoter by standard transgenic procedure and evaluated the relationship between the KCNQ1 mutation and its phenotypes in a human family. RESULTS Four Lines of transgenic mice were established with a high level of human KCNQ1 S140G expression in the heart. Frequent episodes of first-, second-, advanced-, or third-degree atrio-ventricular block (AVB) occurred in at least 65% of transgenic descendants from the four lines. However, none of the five wildtype transgenic Lines presented with AVBs. HMR1556, a KCNQ1-specific blocker, can terminate the AVBs. With the exception of at most three AF individuals, at Least 13 AF patients were found to show obviously stow ventricular response, which may be one manifestation of AVBs. Interestingly, AF was not detected in these transgenic mice. CONCLUSION The results suggest that human KCNQ1 S140G is also Likely to be a causative mutation responsible for AVBs. The transgenic mouse model is a potential tool to explore mechanisms of AVBs. |
| 学科主题 | Cardiovascular System & Cardiology |
| 类目[WOS] | Cardiac & Cardiovascular Systems |
| 关键词[WOS] | RECTIFIER K+ CURRENT ; VENTRICULAR MYOCYTES ; CONDUCTION SYSTEM ; SELECTIVE BLOCKER ; CHROMANOL 293B ; MOUSE ; REPOLARIZATION ; INTERVAL ; HEART ; GENE |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000246188800010 |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.143/handle/331003/1569]  |
| 专题 | 上海生化细胞研究所_上海生科院生化细胞研究所 |
| 推荐引用方式 GB/T 7714 | Yang, YQ,Liu, Y,Dong, XJ,et al. Human KCNQ1 S140G mutation is associated with atrioventricular blocks[J]. HEART RHYTHM,2007,4(5):611-618. |
| APA | Yang, YQ.,Liu, Y.,Dong, XJ.,Kuang, Y.,Lin, J.,...&Chen, YH.(2007).Human KCNQ1 S140G mutation is associated with atrioventricular blocks.HEART RHYTHM,4(5),611-618. |
| MLA | Yang, YQ,et al."Human KCNQ1 S140G mutation is associated with atrioventricular blocks".HEART RHYTHM 4.5(2007):611-618. |
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