A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation

Pflugers Archiv European Journal of Physiology

Volumn 466, Issue 3, 2014, Pages 529-540

  Ki, Chang Seok ^a   Jung, Chae Lim ^a   Kim, Hyun Ji ^a   Baek, Kwan Hyuck ^a   Park, Seung Jung ^a   On, Young Keun ^a   Kim, Ki Suk ^b   Noh, Su Jin ^c   Youm, Jae Boum ^c   Kim, June Soo ^a   Cho, Hana ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Korea Institute of Toxicology   (South Korea)

^c Inje University   (South Korea)

Author keywords

Atrial fibrillation; Bradycardia; Electrophysiology; Ion channel; KCNQ1; Mutation

Indexed keywords

POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1;

ADULT; AGE; ARTICLE; BRADYCARDIA; CASE REPORT; COMPUTER MODEL; CONTROLLED STUDY; ELECTROPHYSIOLOGY; FAMILIAL DISEASE; FEMALE; GENE; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HEART ATRIUM FIBRILLATION; HEART EXCITATION; HEART MUSCLE REFRACTORY PERIOD; HUMAN; HUMAN CELL; KCNQ1 GENE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PACEMAKER; PATCH CLAMP TECHNIQUE; PHENOTYPE; PRIORITY JOURNAL; SIMULATION;

ACTION POTENTIALS; ADULT; AGE FACTORS; ATRIAL FIBRILLATION; BRADYCARDIA; FEMALE; HEK293 CELLS; HETEROZYGOTE; HUMANS; KCNQ1 POTASSIUM CHANNEL; MALE; MIDDLE AGED; MODELS, CARDIOVASCULAR; MUTATION, MISSENSE; PEDIGREE;

EID: 84896739914     PISSN: 00316768     EISSN: 14322013     Source Type: Journal    
DOI: 10.1007/s00424-013-1337-6     Document Type: Article

References (31)

1. Andalib A, Brugada R, Nattel S (2008) Atrial fibrillation: evidence for genetically determined disease. Curr Opin Cardiol 23(3):176-183. doi: 10.1097/HCO.0b013e3282fa7142
2. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G (1996) K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 384(6604):78-80. doi: 10.1038/384078a0
3. Bartos DC, Anderson JB, Bastiaenen R, Johnson JN, Gollob MH, Tester DJ, Burgess DE, Homfray T, Behr ER, Ackerman MJ, Guicheney P, Delisle BP (2013) A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. J Cardiovasc Electrophysiol 24 (5):562-569. doi:10.1111/jce.12068 [doi]
4. Bartos DC, Duchatelet S, Burgess DE, Klug D, Denjoy I, Peat R, Lupoglazoff JM, Fressart V, Berthet M, Ackerman MJ, January CT, Guicheney P, Delisle BP (2011) R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm 8(1):48-55. doi: 10.1016/j.hrthm. 2010.09.010
5. Chan PJ, Osteen JD, Xiong D, Bohnen MS, Doshi D, Sampson KJ, Marx SO, Karlin A, Kass RS (2012) Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1. J Gen Physiol 139 (2):135-144. doi:jgp.201110672 [pii] 10.1085/jgp.201110672 [doi]
6. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W (2003) KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299(5604):251-254. doi: 10.1126/science.1077771
7. Das S, Makino S, Melman YF, Shea MA, Goyal SB, Rosenzweig A, Macrae CA, Ellinor PT (2009) Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation. Heart Rhythm 6(8):1146-1153. doi: 10.1016/j.hrthm.2009.04. 015
8. Demolombe S, Lande G, Charpentier F, van Roon MA, van den Hoff MJ, Toumaniantz G, Baro I, Guihard G, Le Berre N, Corbier A, de Bakker J, Opthof T, Wilde A, Moorman AF, Escande D (2001) Transgenic mice overexpressing human KvLQT1 dominant-negative isoform. Part I: Phenotypic characterisation. Cardiovasc Res 50 (2):314-327. doi:S0008636301002310
9. Duhme N, Schweizer PA, Thomas D, Becker R, Schroter J, Barends TR, Schlichting I, Draguhn A, Bruehl C, Katus HA, Koenen M (2012) Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation. Eur Heart J. doi: 10.1093/eurheartj/ehs391
10. Fedorov VV, Chang R, Glukhov AV, Kostecki G, Janks D, Schuessler RB, Efimov IR (2010) Complex interactions between the sinoatrial node and atrium during reentrant arrhythmias in the canine heart. Circulation 122(8):782-789. doi: 10.1161/CIRCULATIONAHA.109.935288
11. Henrion U, Zumhagen S, Steinke K, Strutz-Seebohm N, Stallmeyer B, Lang F, Schulze-Bahr E, Seebohm G (2012) Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel. Cell Physiol Biochem 29(5-6):809-818. doi: 10.1159/000178470
12. Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R (2005) De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res 68(3):433-440. doi: 10.1016/j.cardiores.2005.06.023
13. Joung B, Shinohara T, Zhang H, Kim D, Choi EK, On YK, Piccirillo G, Chen PS, Lin SF (2010) Tachybradycardia in the isolated canine right atrium induced by chronic sympathetic stimulation and pacemaker current inhibition. Am J Physiol Heart Circ Physiol 299 (3):H634-642. doi: 10.1152/ajpheart.00347.2010
14. Kharche S, Adeniran I, Stott J, Law P, Boyett MR, Hancox JC, Zhang H (2012) Pro-arrhythmogenic effects of the S140G KCNQ1 mutation in human atrial fibrillation - insights from modelling. J Physiol 590 (Pt 18):4501-4514. doi: 10.1113/jphysiol.2012.229146
15. Kurata Y, Hisatome I, Imanishi S, Shibamoto T (2002) Dynamical description of sinoatrial node pacemaking: improved mathematical model for primary pacemaker cell. Am J Physiol Heart Circ Physiol 283(5):H2074-H2101. doi: 10.1152/ajpheart.00900.2001
16. Lee SY, Choi HK, Kim ST, Chung S, Park MK, Cho JH, Ho WK, Cho H (2010) Cholesterol inhibits M-type K+ channels via protein kinase C-dependent phosphorylation in sympathetic neurons. J Biol Chem 285(14):10939-10950. doi: 10.1074/jbc.M109.048868
17. Lundby A, Ravn LS, Svendsen JH, Olesen SP, Schmitt N (2007) KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval. Heart Rhythm 4(12):1532-1541. doi: 10.1016/j.hrthm.2007.07.022
18. Mahida S, Lubitz SA, Rienstra M, Milan DJ, Ellinor PT (2011) Monogenic atrial fibrillation as pathophysiological paradigms. Cardiovasc Res 89(4):692-700. doi: 10.1093/cvr/cvq381
19. Newton-Cheh C, Eijgelsheim M, Rice KM, de Bakker PI, Yin X, Estrada K, Bis JC, Marciante K, Rivadeneira F, Noseworthy PA, Sotoodehnia N, Smith NL, Rotter JI, Kors JA, Witteman JC, Hofman A, Heckbert SR, O'Donnell CJ, Uitterlinden AG, Psaty BM, Lumley T, Larson MG, Stricker BH (2009) Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Gen 41 (4):399-406. doi: 10.1038/ng.364 [doi]
20. Nygren A, Fiset C, Firek L, Clark JW, Lindblad DS, Clark RB, Giles WR (1998) Mathematical model of an adult human atrial cell: the role of K+ currents in repolarization. Circ Res 82(1):63-81
21. Olesen MS, Bentzen BH, Nielsen JB, Steffensen AB, David JP, Jabbari J, Jensen HK, Haunso S, Svendsen JH, Schmitt N (2012) Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. BMC Med Genet 13:24. doi: 10.1186/1471-2350-13-24 [doi]
22. Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P, Christiansen M, Varro A, Olesen SP, Haunso S, Schmitt N, Svendsen JH (2011) Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc Res 89(4):786-793. doi: 10.1093/cvr/cvq348
23. Panaghie G, Abbott GW (2007) The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes. J Gen Physiol 129(2):121-133. doi: 10.1085/jgp.200609612
24. Peroz D, Rodriguez N, Choveau F, Baro I, Merot J, Loussouarn G (2008) Kv7.1 (KCNQ1) properties and channelopathies. J Physiol 586(7):1785-1789. doi: 10.1113/jphysiol.2007.148254
25. Restier L, Cheng L, Sanguinetti MC (2008) Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels. J Physiol 586(Pt 17):4179-4191. doi: 10.1113/jphysiol.2008.157511
26. Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT (1996) Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384(6604):80-83. doi: 10.1038/384080a0
27. Tsai CT, Lai LP, Hwang JJ, Lin JL, Chiang FT (2008) Molecular genetics of atrial fibrillation. J Am Coll Cardiol 52(4):241-250. doi: 10.1016/j.jacc.2008. 02.072
28. Verkerk AO, van-Borren MM, Peters RJ, Broekhuis E, Lam KY, Coronel R, de-Bakker JM, Tan HL, Wilders R (2007) Single cells isolated from human sinoatrial node: action potentials and numerical reconstruction of pacemaker current. Conf Proc IEEE Eng Med Biol Soc 2007:904-907. doi: 10.1109/IEMBS.2007. 4352437
29. Verkerk AO, Wilders R, van-Borren MM, Peters RJ, Broekhuis E, Lam K, Coronel R, de-Bakker JM, Tan HL (2007) Pacemaker current (I(f)) in the human sinoatrial node. Eur Heart J 28(20):2472-2478. doi: 10.1093/eurheartj/ehm339
30. Wijffels MC, Kirchhof CJ, Dorland R, Allessie MA (1995) Atrial fibrillation begets atrial fibrillation. A study in awake chronically instrumented goats. Circulation 92(7):1954-1968
31. Youm JB, Jo SH, Leem CH, Ho WK, Earm YE (2004) Role of stretch-activated channels in stretch-induced changes of electrical activity in rat atrial myocytes. Korean J Physiol Pharmacol 8(1):33-41