Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model

Heart Rhythm - Tập 20 - Trang 89-99 - 2023
Asami Kashiwa1, Takeru Makiyama1,2, Hirohiko Kohjitani1,3, Thomas L. Maurissen4, Taisuke Ishikawa5, Yuta Yamamoto1, Yimin Wuriyanghai1, Jingshan Gao1, Hai Huang1, Tomohiko Imamura1, Takanori Aizawa1, Misato Nishikawa6, Kazuhisa Chonabayashi6,7, Hiroyuki Mishima8, Seiko Ohno9, Futoshi Toyoda10, Seiichi Sato11, Koh-Ichiro Yoshiura8, Kazuhiro Takahashi12, Yoshinori Yoshida6
1Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
2Department of Community Medicine Supporting System, Kyoto University Graduate School of Medicine, Kyoto, Japan
3Department of Biomedical Data Intelligence, Kyoto University Graduate School of Medicine, Kyoto, Japan
4Department of Life Science Frontiers, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
5Omics Research Center, National Cerebral and Cardiovascular Center, Suita, Japan
6Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan
7Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
8Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
9Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan
10Department of Physiology, Shiga University of Medical Science, Otsu, Japan
11Division of Pediatric Cardiology & Pediatric Intensive Care Unit, Okinawa Prefectural Nanbu Medical Center & Children’s Medical Center, Haebaru, Japan
12Department of Pediatrics, Nagara Medical Center, Gifu, Japan

Tài liệu tham khảo

Mikami, 1989, Primary structure and functional expression of the cardiac dihydropyridine-sensitive calcium channel, Nature, 340, 230, 10.1038/340230a0 Yang, 1993, Molecular determinants of Ca2+ selectivity and ion permeation in L-type Ca2+ channels, Nature, 366, 158, 10.1038/366158a0 Heinemann, 1992, Calcium channel characteristics conferred on the sodium channel by single mutations, Nature, 356, 441, 10.1038/356441a0 Burashnikov, 2010, Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death, Heart Rhythm, 7, 1872, 10.1016/j.hrthm.2010.08.026 Ye, 2019, A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel, Heart Rhythm, 16, 270, 10.1016/j.hrthm.2018.08.030 Yamamoto, 2017, Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation, Hum Mol Genet, 26, 1670, 10.1093/hmg/ddx073 Yoshinaga, 2019, Phenotype-based high-throughput classification of long QT syndrome subtypes using human induced pluripotent stem cells, Stem Cell Rep, 13, 394, 10.1016/j.stemcr.2019.06.007 Horvath, 2013, Dynamics of the late Na+ current during cardiac action potential and its contribution to afterdepolarizations, J Mol Cell Cardiol, 64, 59, 10.1016/j.yjmcc.2013.08.010 Himeno, 2015, A human ventricular myocyte model with a refined representation of excitation-contraction coupling, Biophys J, 109, 415, 10.1016/j.bpj.2015.06.017 Hess, 1986, Calcium channel selectivity for divalent and monovalent cations: voltage and concentration dependence of single channel current in ventricular heart cells, J Gen Physiol, 88, 293, 10.1085/jgp.88.3.293 Schwartz, 1995, Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate: implications for gene-specific therapy, Circulation, 92, 3381, 10.1161/01.CIR.92.12.3381 Shimizu, 1998, Cellular basis for the ECG features of the LQT1 form of the long-QT syndrome: effects of β-adrenergic agonists and antagonists and sodium channel blockers on transmural dispersion of repolarization and torsade de pointes, Circulation, 98, 2314, 10.1161/01.CIR.98.21.2314 Bos, 2019, Mexiletine shortens the QT interval in patients with potassium channel-mediated type 2 long QT syndrome, Circ Arrhythm Electrophysiol, 12, 10.1161/CIRCEP.118.007280 Gao, 2013, Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in Timothy syndrome, Circ Arrhythm Electrophysiol, 6, 614, 10.1161/CIRCEP.113.000092 Badri, 2015, Mexiletine prevents recurrent torsades de pointes in acquired long QT syndrome refractory to conventional measures, JACC Clin Electrophysiol, 1, 315, 10.1016/j.jacep.2015.05.008 Makita, 2008, The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome, J Clin Invest, 118, 2219 Bezzina, 1999, A single Na+ channel mutation causing both long-QT and Brugada syndromes, Circ Res, 85, 1206, 10.1161/01.RES.85.12.1206 Shryock, 2013, The arrhythmogenic consequences of increasing late INa in the cardiomyocyte, Cardiovasc Res, 99, 600, 10.1093/cvr/cvt145 Wu, 2011, Late sodium current contributes to the reverse rate-dependent effect of IKr inhibition on ventricular repolarization, Circulation, 123, 1713, 10.1161/CIRCULATIONAHA.110.000661 Guo, 2011, Contribution of late sodium current (I(Na-L)) to rate adaptation of ventricular repolarization and reverse use-dependence of QT-prolonging agents, Heart Rhythm, 8, 762, 10.1016/j.hrthm.2010.12.026 Maltsev, 2006, A multi-modal composition of the late Na+ current in human ventricular cardiomyocytes, Cardiovasc Res, 69, 116, 10.1016/j.cardiores.2005.08.015 Viatchenko-Karpinski, 2014, Intracellular Na+ overload causes oxidation of CaMKII and leads to Ca2+ mishandling in isolated ventricular myocytes, J Mol Cell Cardiol, 76, 247, 10.1016/j.yjmcc.2014.09.009 Xi, 2010, Comparison of contractile behavior of native murine ventricular tissue and cardiomyocytes derived from embryonic or induced pluripotent stem cells, FASEB J, 24, 2739, 10.1096/fj.09-145177