A trafficking-deficient KCNQ1 mutation, T587M, causes a severe phenotype of long QT syndrome by interfering with intracellular hERG transport

Journal of Cardiology - Tập 73 - Trang 343-350 - 2019
Jie Wu1,2,3, Tomoko Sakaguchi2, Kotoe Takenaka4, Futoshi Toyoda3, Keiko Tsuji2, Hiroshi Matsuura3, Minoru Horie2
1Department of Pharmacology, School of Basic Medical Science, Xi'an Jiaotong University Health Science Center, Xi’an, Shaanxi, China
2Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan
3Department of Physiology, Shiga University of Medical Science, Otsu, Japan
4Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan

Tài liệu tham khảo

Bohnen, 2017, Molecular pathophysiology of congenital long QT syndrome, Physiol Rev, 97, 89, 10.1152/physrev.00008.2016 Schwartz, 2013, Impact of genetics on the clinical management of channelopathies, J Am Coll Cardiol, 62, 169, 10.1016/j.jacc.2013.04.044 Sanguinetti, 2000, syndrome: ionic basis and arrhythmia mechanism in long QT syndrome type 1, J Cardiovasc Electrophysiol, 11, 710, 10.1111/j.1540-8167.2000.tb00035.x Yamashita, 2001, Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus, J Mol Cell Cardiol, 33, 197, 10.1006/jmcc.2000.1300 Furushima, 2010, Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation, J Cardiovasc Electrophysiol, 21, 1170, 10.1111/j.1540-8167.2010.01758.x Chen, 2003, KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death, Clin Genet, 63, 273, 10.1034/j.1399-0004.2003.00048.x Ruwald, 2016, Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1, Heart Rhythm, 13, 122, 10.1016/j.hrthm.2015.08.033 Shimizu, 2004, Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan, J Am Coll Cardiol, 44, 117, 10.1016/j.jacc.2004.03.043 Wu, 2018, A hERG-E1039X mutation and KCNQ1-R174C mutation produced a synergistic lesion on cardiac IKs channel in a compound LQTS family, Sci Rep, 8, 3129, 10.1038/s41598-018-21442-6 Kui, 2016, New in vitro model for proarrhythmia safety screening: IKs inhibition potentiates the QTc prolonging effect of IKr inhibitors in isolated guinea pig hearts, J Pharmacol Toxicol Methods, 80, 26, 10.1016/j.vascn.2016.04.005 Organ-Darling, 2013, Interactions between hREG and KCNQ1 α-subunits are mediated by their COOH termini and modulated by cAMP, Am J Physiol Heart Circ Physiol, 304, H589, 10.1152/ajpheart.00385.2012 Guo, 2011, Interaction between the cardiac rapidly (IKr) and slowly (IKs) activating delayed rectifier potassium channels revealed by low K+-induced hERG endocytic degradation, J Biol Chem, 286, 34664, 10.1074/jbc.M111.253351 Ren, 2010, Pore mutants of HERG and KvLQT1 downregulate the reciprocal currents in stable cell lines, Am J Physiol Heart Circ Physiol, 299, H1525, 10.1152/ajpheart.00479.2009 Ehrlich, 2004, KvLQT1 modulates the distribution and biophysical properties of HERG. A novel alpha-subunit interaction between delayed rectifier currents, J Biol Chem, 279, 1233, 10.1074/jbc.M309087200 Kubota, 2000, Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1, J Cardiovasc Electrophysiol, 11, 1048, 10.1111/j.1540-8167.2000.tb00178.x Yagi, 2018, A challenge for mutation specific risk stratification in long QT syndrome type 1, J Cardiol, 72, 56, 10.1016/j.jjcc.2017.12.011 Zaccolo, 2004, Use of chimeric fluorescent proteins and fluorescence resonance energy transfer to monitor cellular responses, Circ Res, 94, 866, 10.1161/01.RES.0000123825.83803.CD Gu, 2004, Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing, J Microsc, 215, 162, 10.1111/j.0022-2720.2004.01365.x Yang, 1997, Rapid inactivation determines the rectification and [K]o dependence of the rapid component of the delayed rectifier K+ current in cardiac cells, Circ Res, 80, 782, 10.1161/01.RES.80.6.782 Schmitt, 2000, A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly, EMBO J, 19, 332, 10.1093/emboj/19.3.332 Biliczki, 2009, Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr–IKs alpha-subunit interaction, Heart Rhythm, 6, 1792, 10.1016/j.hrthm.2009.08.009 Fujii, 2017, Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote, J Cardiol, 70, 74, 10.1016/j.jjcc.2016.09.010