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《国际心血管病杂志》[ISSN:1006-6977/CN:61-1281/TN]

期数:

2024年02期

页码:

114-117,122

栏目:

临床研究

出版日期:

2024-03-25

文章信息/Info

Title:

Identification and functional investigation of a new TBX20 mutation contributing to lone atrial fibrillation

作者:

张道良; 李宁; 姜伟峰; 吴绍辉; 仇兴标; 杨奕清

518057 中国医学科学院阜外医院深圳医院心律失常中心（张道良）；200062 上海中医药大学附属普陀医院心内科（李宁）；200030 上海交通大学医学院附属胸科医院心内科（姜伟峰，吴绍辉，仇兴标）；200240 复旦大学附属上海市第五人民医院心内科、心血管研究室、中心实验室（杨奕清）

Author(s):

ZHANG Daoliang¹;  LI Ning²;  JIANG Weifeng³;  WU Shaohui³;  QIU Xingbiao³;  YANG Yiqing⁴

1. Cardiac Arrhythmia Center, Shenzhen Hospital of Fuwai Hospital, Chinese Academy of Medical Sciences, Shenzhen 518057; 2. Department of Cardiology, Putuo Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200062; 3. Department of Ca

关键词:

心房颤动; 分子遗传学; 转录因子; TBX20基因; 报告基因分析

Keywords:

Atrial fibrillation;  Molecular genetics;  Transcriptional factor;  TBX20;  Report gene analysis

分类号:

-

DOI:

10.3969/j.issn.1673-6583.2024.02.013

文献标识码:

-

摘要:

目的：寻找孤立性心房颤动（房颤）致病基因TBX20新突变并研究其功能。方法：测序分析182例孤立性房颤患者和236名无房颤对照者的TBX20基因，以发现新的致房颤突变。克隆人TBX20基因，构建野生型TBX20表达质粒，通过定点诱变制备突变型TBX20表达质粒，借助脂质体将表达质粒转染HeLa细胞，应用双荧光素酶报告基因分析系统研究突变体的功能特性。结果：在1例散发性孤立性房颤患者中发现TBX20基因新突变，即NM_001077653.2:c.706A＞T;p.（Lys236*）突变。该突变不存在于其他孤

Abstract:

Objective: To identify and functionally investigate a new TBX20 mutation underlying lone atrial fibrillation.? Methods: Sequencing assay of TBX20 was performed in 182 patients with lone atrial fibrillation and 236 control individuals without atrial fibril

参考文献/References

[1] Li N, Li YJ, Guo XJ, et al. Discovery of TBX20 as a novel gene underlying atrial fibrillation[J]. Biology (Basel), 2023, 12(9):1186.
[2] Lee DSM, Damrauer SM, Levin MG. Genetics of atrial fibrillation[J]. Curr Opin Cardiol, 2023, 38(3):162-168.
[3] January CT, Wann LS, Alpert JS, et al. 2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation:a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines and the Heart Rhythm Society[J]. Circulation, 2014, 130(23):e199-e267.
[4] Pan Y, Geng R, Zhou N, et al. TBX20 loss-of-function mutation contributes to double outlet right ventricle[J]. Int J Mol Med, 2015, 35(4):1058-1066.
[5] 陈春英, 刘兴元, 杨奕清. 先天性房间隔缺损致病基因KLF13新突变的识别与功能分析[J]. 国际心血管病杂志, 2023, 50(2):108-112.
[6] Wang QS, Wang XF, Chen XD, et al. Genetic polymorphism of KCNH2 confers predisposition of acquired atrial fibrillation in Chinese[J]. J Cardiovasc Electrophysiol, 2009, 20(10):1158-1162.
[7] Sinner MF, Pfeufer A, Akyol M, et al. The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG )[J]. Eur Heart J, 2008, 29(7):907-914.
[8] Hong K, Bjerregaard P, Gussak I, et al. Short QT syndrome and atrial fibrillation caused by mutation in KCNH2[J]. J Cardiovasc Electrophysiol, 2005, 16(4):394-396.
[9] Cheng YW, Wu CT, Chang CJ, et al. A novel KCNH2 S981fs mutation identified by whole-exome sequencing is associated with type 2 long QT syndrome[J]. Int J Mol Sci, 2023, 24(16):12742.
[10] Zhou Y, Hao N, Sander JW, et al. KCNH2 variants in a family with epilepsy and long QT syndrome: a case report and literature review[J]. Epileptic Disord, 2023, 25(4):492-499.
[11] Chen Y, Xiao D, Zhang L, et al. The role of Tbx20 in cardiovascular development and function[J]. Front Cell Dev Biol, 2021, 9:638542.
[12] Caballero R, Utrilla RG, Amorós I, et al. Tbx20 controls the expression of the KCNH2 gene and of hERG channels[J]. Proc Natl Acad Sci U S A, 2017, 114(3):E416-E425.
[13] Brown DD, Martz SN, Binder O, et al. Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis[J]. Development, 2005, 132(3):553-563.
[14] Stennard FA, Costa MW, Elliott DA, et al. Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart[J]. Dev Biol, 2003, 262(2):206-224.
[15] van Weerd JH, Christoffels VM. The formation and function of the cardiac conduction system[J]. Development, 2016, 143(2):197-210.
[16] Shen T, Aneas I, Sakabe N, et al. Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function[J]. J Clin Invest, 2011, 121(12):4640-4654.
[17] Trudeau MC, Warmke JW, Ganetzky B, et al. HERG, a human inward rectifier in the voltage-gated potassium channel family[J]. Science, 1995, 269(5220):92-95.
[18] Nattel S, Dobrev D. Electrophysiological and molecular mechanisms of paroxysmal atrial fibrillation[J]. Nat Rev Cardiol, 2016, 13(10):575-590.
[19] Zhao CM, Sun B, Song HM, et al. TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy[J]. Clin Chem Lab Med, 2016, 54(2):325-332.

备注/Memo

备注/Memo:

基金项目：国家自然科学基金（82070331）；广东省引进创新创业团队项目（2019ZT08Y481）
通信作者：张道良， E-mail：xkzhangdaoliang@126.com

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更新日期/Last Update: 2024-03-25