索引超出了数组界限。 文章摘要
|本期目录/Table of Contents|

[1]郑泽群 廉姜芳.2型长QT综合征研究进展[J].国际心血管病杂志,2020,05:268-271.
点击复制

2型长QT综合征研究进展(PDF)

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

期数:
2020年05期
页码:
268-271
栏目:
综述
出版日期:
2020-10-15

文章信息/Info

Title:
-
作者:
郑泽群 廉姜芳
315211 宁波大学医学院(郑泽群); 315211 宁波大学附属李惠利医院心内科(廉姜芳)
Author(s):
-
关键词:
hERG;  2型长QT综合征;  治疗
Keywords:
-
分类号:
-
DOI:
10.3969/j.issn.1673-6583.2020.05.004
文献标识码:
-
摘要:
2型长QT综合征(LQT2)是由hERG基因突变引起心肌细胞膜上快速延迟整流钾电流(IKr)减少或完全消失,造成动作电位时程延长,临床上以QT间期延长和潜在致命性心律失常为特点。针对高风险性LQT2的治疗主要包括β受体阻滞剂、植入心律转复除颤器(ICD)等。随着基因编辑、干细胞等技术的发展,针对hERG基因突变机制的相关研究取得较大突破。该文对LQT2研究进展作简要介绍。
Abstract:
-

参考文献/References

[1] Kapplinger JD, Tester DJ, Salisbury BA, et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION○R long QT syndrome genetic test[J]. Heart Rhythm, 2009, 6(9):1297-1303.
[2] Zhang KP, Yang BF, Li BX. Translational toxicology and rescue strategies of the hERG Channel dysfunction: biochemical and molecular mechanistic aspects[J]. Acta Pharmacol Sin, 2014, 35(12):1473-1484.
[3] Schwartz PJ, Ackerman MJ. The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy[J]. Eur Heart J, 2013, 34(40):3109-3116.
[4] Schwartz PJ, Gnecchi M, Dagradi F, et al. From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2[J]. Eur Heart J, 2019, 40(23): 1832-1836.
[5] Schwartz PJ, Spazzolini C, Priori SG, et al. Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator(LQTS ICD)Registry[J]. Circulation, 2010, 122(13):1272-1282.
[6] Brandão KO, Viola AT, Douwe EA, et al. Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies[J]. Dis Model Mech, 2017, 10(9): 1039-1059.
[7] Sala L, Gnecchi M, Schwartz PJ. Long QT syndrome modelling with cardiomyocytes derived from human-induced pluripotent stem cells[J]. Arrhythm Electrophysiol Rev, 2019, 8(2):105-110.
[8] Itzhaki I, Maizels L, Huber I, et al. Modelling the long QT syndrome with induced pluripotent stem cells[J]. Nature, 2011, 471(7337):225-229.
[9] Vandenberg JI, Perry MD, Perrin MJ, et al. hERG K+ channels: structure, function, and clinical significance[J]. Physiol Rev, 2012, 92(3):1393-1478.
[10] Maattanen P, Gehring K, Bergeron JJ, et al. Protein quality control in the ER: the recognition of misfolded proteins[J]. Semin Cell Dev Biol, 2010, 21(5):500-511.
[11] Qian W, Groenendyk J, Michalak M. Glycoprotein quality control and endoplasmic reticulum stress[J]. Molecules, 2015, 20(8):13689-13704.
[12] Hantouche C, Williamson B, Valinsky WC, et al. Bag1 co-chaperone promotes TRC8 E3 ligase-dependent degradation of misfolded human ether a go-go-related gene(hERG)Potassium Channels[J]. J Biol Chem, 2017, 292(6):2287-2300.
[13] Jennifer LS, Anderson CL, Burgess DE, et al. Molecular pathogenesis of long QT syndrome type 2[J].J Arrhythm, 2016, 32(5):373-380.
[14] Anneken L, Baumann S, Vigneault P, et al. Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking[J]. Eur Heart J, 2016, 37(7):640-650.
[15] Kai L, Qiang J, Xue B, et al. Tetrameric assembly of K+ channels requires ER-located chaperone proteins[J]. Mol Cell, 2017, 65(1):52-65.
[16] Vandenberg J, Perozo E, Allen TW. Towards a structchannel structure-activityural view of drug binding to hERG K+channels[J]. Trends Pharmacol Sci, 2017, 38(10):899-907.
[17] Clancy CE, Kurokawa J, Tateyama M, et al. K+ Channel structure-activity relationships and mechanisms of drug-induced QT prolongation[J]. Annu Rev Pharmacol Toxicol, 2003, 43:441-461.
[18] Mehta A, Ramachandra CA, Singh P, et al. Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model[J]. Eur Heart J, 2018, 39(16):1446-1455.
[19] Sanguinetti MC. HERG1 channelopathies[J].Pflugers Arch, 2010, 460(2):265-276.
[20] Joseph CW, Garg P, Yoshida Y, et al. Towards precision medicine with human iPSCs for cardiac channelopathies[J]. Circ Res, 2019, 125(6):653-658.
[21] Sala L, Yu Z, Ward-van Oostwaard D, et al. A new hERG allosteric modulator rescues genetic and drug-induced long-QT syndrome phenotypes in cardiomyocytes from isogenic pairs of patient induced pluripotent stem cells [J]. EMBO Mol Med, 2016, 8(9):1065-1081.
[22] Mehta A, Sequiera GL, Ramachandra CA, et al. Re-trafficking of hERG reverses long QT syndrome 2 phenotype in human iPS-derived cardiomyocytes[J]. Cardiovasc Res, 2014, 102(3):497-506.
[23] Goor FV, Hadida S, Grootenhuis PJ, et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809[J]. Proc Natl Acad Sci U S A, 2011, 108(46):18843-18848.
[24] Clancy JP, Rowe SM, Accurso FJ, et al. Results of a phase Ⅱa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation[J]. Thorax, 2012, 67(1):12-18.
[25] Sampson HM, Lam H, Chen PC, et al. Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines[J]. Orphanet J Rare Dis, 2013, 8(1):11.
[26] Pulecio J, Verma N, Mejía-Ramírez E, et al. CRISPR/Cas9-Based engineering of the epigenome[J]. Cell Stem Cell, 2017, 21(4):431-447.
[27] Mesquita FCP, Arantes PC, Kasai-Brunswick TH, et al. R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome [J]. Sci Rep, 2019, 9(1):19203.
[28] Chai S, Wan X, Ramirez-Navarro A, et al. Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity [J]. J Clin Invest, 2018, 128(3):1043-1056.
[29] Garg P, Oikonomopoulos A, Chen HD, et al. Genome editing of induced pluripotent stem cells to decipher cardiac channelopathy variant[J]. J Am Coll Cardiol, 2018, 72(1):62-75.
[30] Matsa E, James ED, Medway C, et al. Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes[J]. Eur Heart J, 2014, 35(16):1078-1087.

备注/Memo

备注/Memo:
-
更新日期/Last Update: 2020-10-15