|本期目录/Table of Contents|

[1]乔祺,杨晨曦,顾佳宁,等.KLF15基因突变导致心房颤动的机制[J].国际心血管病杂志,2021,01:53-57.
 QIAO Qi,YANG Chenxi,GU Jianing,et al.Mechanism of atrial fibrillation induced by KLF15 mutation[J].International Journal of Cardiovascular Disease,2021,01:53-57.
点击复制

KLF15基因突变导致心房颤动的机制(PDF)

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

期数:
2021年01期
页码:
53-57
栏目:
临床研究
出版日期:
2021-01-20

文章信息/Info

Title:
Mechanism of atrial fibrillation induced by KLF15 mutation
作者:
乔祺杨晨曦顾佳宁柯尊平杨奕清徐迎佳
200240 复旦大学附属上海市第五人民医院心内科,闵行区复杂心律失常中心,心血管研究室
Author(s):
QIAO Qi YANG Chenxi GU Jianing KE Zunping YANG Yiqing XU Yingjia
Department of Cardiology, Minhang Center for Complex Cardiac Arrhythmias, Cardiovascular Research Laboratory, Shanghai Fifth People’s Hospital, Fudan University, Shanghai 200240, China
关键词:
心房颤动 遗传学 转录因子 KLF15 报告基因分析
Keywords:
Atrial fibrillation Genetics Transcriptional factor KLF15 Reporter gene assay
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2021.01.013
文献标识码:
-
摘要:
目的:探讨KLF15基因突变导致心房颤动(房颤)的机制。方法:收集152例特发性房颤患者和206名健康对照者的临床数据和血标本,提取基因组DNA。测序分析KLF15基因以寻找致房颤突变。克隆KLF15基因,构建其野生型和突变型表达质粒,转染培养的HeLa细胞,应用双荧光报告基因分析系统研究突变体的功能特点。结果:在1例特发性房颤患者中发现KLF15基因新突变c.946G>T(p.Glu316X),该突变不存在于206名对照者中。功能分析表明该突
Abstract:
Objective:To explore the mechanism of atrial fibrillation(AF)resulted from a mutation in the KLF15 gene.Methods:Clinical data and peripheral venous blood samples were collected from 152 unrelated patients affected with idiopathic AF and 206 unrelat

参考文献/References

[1] Tian XT, Xu YJ, Yang YQ. Gender differences in arrhythmias: focused on atrial fibrillation[J]. J Cardiovasc Transl Res, 2020, 13(1):85-96.
[2] Qin D, Mansour MC, Ruskin JN, et al. Atrial fibrillation-mediated cardiomyopathy[J]. Circ Arrhythm Electrophysiol, 2019, 12(12):e007809.
[3] Wijesurendra RS, Casadei B. Mechanisms of atrial fibrillation[J]. Heart, 2019, 105(24):1860-1867.
[4] Lau DH, Nattel S, Kalman JM, et al. Modifiable risk factors and atrial fibrillation[J]. Circulation, 2017, 136(6):583-596.
[5] Roselli C, Rienstra M, Ellinor PT. Genetics of atrial fibrillation in 2020: GWAS, genome sequencing, polygenic risk, and beyond[J]. Circ Res, 2020, 127(1):21-33.
[6] Li N, Wang ZS, Wang XH, et al. A SHOX2 loss-of-function mutation underlying familial atrial fibrillation[J]. Int J Med Sci, 2018, 15(13):1564-1572.
[7] Jeyaraj D, Haldar SM, Wan X, et al. Circadian rhythms govern cardiac repolarization and arrhythmogenesis[J]. Nature, 2012, 483(7387):96-99.
[8] Olesen MS, Refsgaard L, Holst AG, et al. A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation[J]. Cardiovasc Res, 2013, 98(3):488-495.
[9] 董斌斌, 刘兴元, 杨奕清. 先天性心脏缺损相关 NR2F2 基因新突变研究[J]. 国际心血管病杂志, 2019, 46(4):240-243.
[10] 乔祺, 杨晨曦, 顾佳宁, 等. 散发性扩张型心肌病相关ISL1基因突变分析[J]. 国际心血管病杂志, 2020, 47(3):162-167.
[11] Xu YJ, Wang ZS, Yang CX, et al. Identification and functional characterization of an ISL1 mutation predisposing to dilated cardiomyopathy[J]. J Cardiovasc Transl Res, 2019, 12(3):257-267.
[12] Yamamoto J, Ikeda Y, Iguchi H, et al. A Kruppel-like factor KLF15 contributes fasting-induced transcriptional activation of mitochondrial acetyl-CoA synthetase gene AceCS2[J]. J Biol Chem, 2004, 279(17):16954-16962.
[13] Prosdocimo DA, Anand P, Liao X, et al. Kruppel-like factor 15 is a critical regulator of cardiac lipid metabolism[J]. J Biol Chem, 2014, 289(9):5914-5924.
[14] Gray S, Feinberg MW, Hull S, et al. The Krüppel-like factor KLF15 regulates the insulin-sensitive glucose transporter GLUT4[J]. J Biol Chem, 2002, 277(37):34322-34328.
[15] Niwa N, Nerbonne JM. Molecular determinants of cardiac transient outward potassium current(I(to))expression and regulation[J]. J Mol Cell Cardiol, 2010, 48(1):12-25.
[16] Kuo HC, Cheng CF, Clark RB, et al. A defect in the Kv channel-interacting protein 2(KChIP2)gene leads to a complete loss of I(to)and confers susceptibility to ventricular tachycardia[J]. Cell, 2001, 107(6):801-813.
[17] Qiu J, Zhou S, Liu Q. Energy metabolic alterations in the progression of atrial fibrillation:Potential role of AMP-activated protein kinase as a critical regulator[J]. Int J Cardiol, 2016, 212:14-15.
[18] Nattel S. Molecular and cellular mechanisms of atrial fibrosis in atrial fibrillation[J]. JACC Clin Electrophysiol, 2017, 3(5):425-435.
[19] Wang B, Haldar SM, Lu Y, et al. The Kruppel-like factor KLF15 inhibits connective tissue growth factor(CTGF)expression in cardiac fibroblasts[J]. J Mol Cell Cardiol, 2008, 45(2):193-197.

备注/Memo

备注/Memo:
基金项目:上海市闵行区自然科学基金(2018MHZ072,2019MHZ014,2020MHZ041); 上海市卫生健康委员会基金(201740064)
通信作者:徐迎佳,E-mail:xuyingjia@5thhospital.com
更新日期/Last Update: 2021-01-20