메뉴 건너뛰기




Volumn 98, Issue 3, 2013, Pages 488-495

A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation

Author keywords

Atrial fibrillation; Brugada syndrome; KV4.3; KCND3; KCNIP2; Transient outward potassium current

Indexed keywords

ADULT; ALLELE; ARTICLE; CHO CELL; CONTROLLED STUDY; FEMALE; GAIN OF FUNCTION MUTATION; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; HEART ATRIUM FIBRILLATION; HUMAN; HUMAN CELL; KCND3 GENE; KCNIP2 GENE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

EID: 84877958196     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvt028     Document Type: Article
Times cited : (98)

References (41)
  • 2
    • 0035940379 scopus 로고    scopus 로고
    • ACC/AHA/ESC Guidelines for the Management of Patients with Atrial Fibrillation: Executive Summary A Report of the American College of Cardiology
    • Fuster V, Ryden LE, Asinger RW, Cannom DS, Crijns HJ, Frye RL et al. ACC/AHA/ESC Guidelines for the Management of Patients With Atrial Fibrillation: Executive Summary A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the European Society of Cardiology Committee for Practice Guidelines and Policy Conferences (Committee to Develop Guidelines for the Management of Patients With Atrial Fibrillation) Developed in Collaboration With the North American Society of Pacing and Electrophysi-ology. Circulation 2001;104:2118-2150.
    • (2001) Circulation , vol.104 , pp. 2118-2150
    • Fuster, V.1    Ryden, L.E.2    Asinger, R.W.3    Cannom, D.S.4    Crijns, H.J.5    Frye, R.L.6
  • 3
    • 0035832261 scopus 로고    scopus 로고
    • Prevalence of diagnosed atrial fibrillation in adults: National implications for rhythm management and stroke prevention: The AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study
    • Go AS, Hylek EM, Phillips KA, Chang Y, Henault LE, Selby JV et al. Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. JAMA 2001;285:2370-2375.
    • (2001) JAMA , vol.285 , pp. 2370-2375
    • Go, A.S.1    Hylek, E.M.2    Phillips, K.A.3    Chang, Y.4    Henault, L.E.5    Selby, J.V.6
  • 4
    • 0034778819 scopus 로고    scopus 로고
    • Population prevalence, incidence, and predictors of atrial fibrillation in the Renfrew/Paisley study
    • Stewart S, Hart CL, Hole DJ, McMurray JJ. Population prevalence, incidence, and predictors of atrial fibrillation in the Renfrew/Paisley study. Heart 2001;86:516-521.
    • (2001) Heart , vol.86 , pp. 516-521
    • Stewart, S.1    Hart, C.L.2    Hole, D.J.3    McMurray, J.J.4
  • 6
  • 7
    • 0037050001 scopus 로고    scopus 로고
    • New ideas about atrial fibrillation 50 years on
    • Nattel S. New ideas about atrial fibrillation 50 years on. Nature 2002;415:219-226.
    • (2002) Nature , vol.415 , pp. 219-226
    • Nattel, S.1
  • 9
    • 2942537772 scopus 로고    scopus 로고
    • Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring
    • Fox CS, Parise H, D'Agostino RB Sr, Lloyd-Jones DM, Vasan RS, Wang TJ et al. Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. JAMA 2004;291: 2851-2855.
    • (2004) JAMA , vol.291 , pp. 2851-2855
    • Fox, C.S.1    Parise, H.2    Lloyd-Jones, D.M.3    Vasan, R.S.4    Wang, T.J.5
  • 12
    • 70349483986 scopus 로고    scopus 로고
    • Genetics of familial atrial fibrillation
    • Campuzano O, Brugada R. Genetics of familial atrial fibrillation. Europace 2009;11: 1267-1271.
    • (2009) Europace , vol.11 , pp. 1267-1271
    • Campuzano, O.1    Brugada, R.2
  • 15
    • 84859971741 scopus 로고    scopus 로고
    • SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation
    • Olesen MS, Holst AG, Svendsen JH, Haunso S, Tfelt-Hansen J. SCN1Bb R214Q found in 3 patients: 1 with Brugada syndrome and 2 with lone atrial fibrillation. Heart Rhythm 2012;9:770-773.
    • (2012) Heart Rhythm , vol.9 , pp. 770-773
    • Olesen, M.S.1    Holst, A.G.2    Svendsen, J.H.3    Haunso, S.4    Tfelt-Hansen, J.5
  • 16
    • 84866643004 scopus 로고    scopus 로고
    • High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation
    • Olesen MS, Yuan L, Liang B, Holst AG, Nielsen N, Nielsen JB et al. High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet 2012;5:450-459.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 450-459
    • Olesen, M.S.1    Yuan, L.2    Liang, B.3    Holst, A.G.4    Nielsen, N.5    Nielsen, J.B.6
  • 17
    • 84891632188 scopus 로고    scopus 로고
    • Genetic variation in KCNA5: Impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation
    • Christophersen IE, Olesen MS, Liang B, Andersen MN, Larsen AP, Nielsen JB et al. Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation. Eur Heart J 2012, http://eurheartj. oxfordjournals.org/content/early/2012/12/20/eurheartj.ehs442. long.
    • (2012) Eur Heart J
    • Christophersen, I.E.1    Olesen, M.S.2    Liang, B.3    Andersen, M.N.4    Larsen, A.P.5    Nielsen, J.B.6
  • 18
    • 0016416595 scopus 로고
    • Evidence for reentry as a mechanism of cardiac arrhythmias
    • Moe GK. Evidence for reentry as a mechanism of cardiac arrhythmias. Rev Physiol Biochem Pharmacol 1975;72:55-81.
    • (1975) Rev Physiol Biochem Pharmacol , vol.72 , pp. 55-81
    • Moe, G.K.1
  • 19
    • 79959921753 scopus 로고    scopus 로고
    • Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome
    • Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV et al. Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 2011;8:1024-1032.
    • (2011) Heart Rhythm , vol.8 , pp. 1024-1032
    • Giudicessi, J.R.1    Ye, D.2    Tester, D.J.3    Crotti, L.4    Mugione, A.5    Nesterenko, V.V.6
  • 20
    • 84865193189 scopus 로고    scopus 로고
    • Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death
    • Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C et al. Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. Hum Mutat 2012;33:989-997.
    • (2012) Hum Mutat , vol.33 , pp. 989-997
    • Giudicessi, J.R.1    Ye, D.2    Kritzberger, C.J.3    Nesterenko, V.V.4    Tester, D.J.5    Antzelevitch, C.6
  • 21
    • 27744555896 scopus 로고    scopus 로고
    • Transient outward potassium current, 'Ito', phenotypes in the mammalian left ventricle: Underlying molecular, cellular and biophysical mechanisms
    • Patel SP, Campbell DL. Transient outward potassium current, 'Ito', phenotypes in the mammalian left ventricle: underlying molecular, cellular and biophysical mechanisms. J Physiol 2005;569:7-39.
    • (2005) J Physiol , vol.569 , pp. 7-39
    • Patel, S.P.1    Campbell, D.L.2
  • 22
    • 73049088724 scopus 로고    scopus 로고
    • Molecular determinants of cardiac transient outward potassium current (I(to)) expression and regulation
    • Niwa N, Nerbonne JM. Molecular determinants of cardiac transient outward potassium current (I(to)) expression and regulation. J Mol Cell Cardiol 2009;48:12-25.
    • (2009) J Mol Cell Cardiol , vol.48 , pp. 12-25
    • Niwa, N.1    Nerbonne, J.M.2
  • 24
    • 84859183376 scopus 로고    scopus 로고
    • Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation
    • Olesen MS, Bentzen BH, Nielsen JB, Steffensen AB, David JP, Jabbari J et al. Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation. BMC Med Genet 2012;60:24.
    • (2012) BMC Med Genet , vol.60 , pp. 24
    • Olesen, M.S.1    Bentzen, B.H.2    Nielsen, J.B.3    Steffensen, A.B.4    David, J.P.5    Jabbari, J.6
  • 25
    • 79951889503 scopus 로고    scopus 로고
    • Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation
    • Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P et al. Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc Res 2011;89:786-793.
    • (2011) Cardiovasc Res , vol.89 , pp. 786-793
    • Olesen, M.S.1    Jespersen, T.2    Nielsen, J.B.3    Liang, B.4    Moller, D.V.5    Hedley, P.6
  • 26
    • 77954878828 scopus 로고    scopus 로고
    • Effect of the I(to) activator NS5806 on cloned K(V)4 channels depends on the accessory protein KChIP2
    • Lundby A, Jespersen T, Schmitt N, Grunnet M, Olesen SP, Cordeiro JM et al. Effect of the I(to) activator NS5806 on cloned K(V)4 channels depends on the accessory protein KChIP2. Br J Pharmacol 2010;160:2028-2044.
    • (2010) Br J Pharmacol , vol.160 , pp. 2028-2044
    • Lundby, A.1    Jespersen, T.2    Schmitt, N.3    Grunnet, M.4    Olesen, S.P.5    Cordeiro, J.M.6
  • 27
    • 33751569719 scopus 로고    scopus 로고
    • Functional modulation of the transient outward current Ito by KCNE b-subunits and regional distribution in human non-failing and failing hearts
    • Radicke S, Cotella D, Graf EM, Banse U, Jost N, Varro A et al. Functional modulation of the transient outward current Ito by KCNE b-subunits and regional distribution in human non-failing and failing hearts. Cardiovasc Res 2006;71:695-703.
    • (2006) Cardiovasc Res , vol.71 , pp. 695-703
    • Radicke, S.1    Cotella, D.2    Graf, E.M.3    Banse, U.4    Jost, N.5    Varro, A.6
  • 28
    • 70449644671 scopus 로고    scopus 로고
    • Closed-state inactivation in Kv4.3 isoforms is differentially modulated by protein kinase C
    • Xie C, Bondarenko VE, Morales MJ, Strauss HC. Closed-state inactivation in Kv4.3 isoforms is differentially modulated by protein kinase C. Am J Physiol Cell Physiol 2009;297:C1236-C1248.
    • (2009) Am J Physiol Cell Physiol , vol.297
    • Xie, C.1    Bondarenko, V.E.2    Morales, M.J.3    Strauss, H.C.4
  • 29
    • 80052850975 scopus 로고    scopus 로고
    • Comparison of the effects of a transient outward potassium channel activator on currents recorded from atrial and ventricular cardiomyocytes
    • Calloe K, Nof E, Jespersen T, Di Diego JM, Chlus N, Olesen SP et al. Comparison of the effects of a transient outward potassium channel activator on currents recorded from atrial and ventricular cardiomyocytes. J Cardiovasc Electrophysiol 2011;22:1057-1066.
    • (2011) J Cardiovasc Electrophysiol , vol.22 , pp. 1057-1066
    • Calloe, K.1    Nof, E.2    Jespersen, T.3    Di Diego, J.M.4    Chlus, N.5    Olesen, S.P.6
  • 30
    • 33750856807 scopus 로고    scopus 로고
    • Ionic mechanisms underlying human atrial action potential properties: Insights from a mathematical model
    • Courtemanche M, Ramirez RJ, Nattel S. Ionic mechanisms underlying human atrial action potential properties: insights from a mathematical model. Am J Physiol 1998; 275:H301-H321.
    • (1998) Am J Physiol , vol.275
    • Courtemanche, M.1    Ramirez, R.J.2    Nattel, S.3
  • 31
    • 84866348768 scopus 로고    scopus 로고
    • Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation
    • Ritchie MD, Rowan S, Kucera G, Stubblefield T, Blair M, Carter S et al. Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. J Am Coll Cardiol 2012;60:1173-1181.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 1173-1181
    • Ritchie, M.D.1    Rowan, S.2    Kucera, G.3    Stubblefield, T.4    Blair, M.5    Carter, S.6
  • 32
    • 84858623227 scopus 로고    scopus 로고
    • Genetic loci on chromosomes 4q25, 7p31, and 12p12 are associated with onset of lone atrial fibrillation before the age of 40 years
    • Olesen MS, Holst AG, Jabbari J, Nielsen JB, Christophersen IE, Sajadieh A et al. Genetic loci on chromosomes 4q25, 7p31, and 12p12 are associated with onset of lone atrial fibrillation before the age of 40 years. Can J Cardiol 2012;28:191-195.
    • (2012) Can J Cardiol , vol.28 , pp. 191-195
    • Olesen, M.S.1    Holst, A.G.2    Jabbari, J.3    Nielsen, J.B.4    Christophersen, I.E.5    Sajadieh, A.6
  • 34
    • 22244453703 scopus 로고    scopus 로고
    • Ionic determinants of functional reentry in a 2-D model of human atrial cells during simulated chronic atrial fibrillation
    • Pandit SV, Berenfeld O, Anumonwo JM, Zaritski RM, Kneller J, Nattel S et al. Ionic determinants of functional reentry in a 2-D model of human atrial cells during simulated chronic atrial fibrillation. Biophys J 2005;88:3806-3821.
    • (2005) Biophys J , vol.88 , pp. 3806-3821
    • Pandit, S.V.1    Berenfeld, O.2    Anumonwo, J.M.3    Zaritski, R.M.4    Kneller, J.5    Nattel, S.6
  • 35
    • 60149087552 scopus 로고    scopus 로고
    • A transient outward potassium current activator recapitulates the electrocardiograph-ic manifestations of Brugada syndrome
    • Calloe K, Cordeiro JM, Di Diego JM, Hansen RS, Grunnet M, Olesen SP et al. A transient outward potassium current activator recapitulates the electrocardiograph-ic manifestations of Brugada syndrome. Cardiovasc Res 2009;81:686-694.
    • (2009) Cardiovasc Res , vol.81 , pp. 686-694
    • Calloe, K.1    Cordeiro, J.M.2    Di Diego, J.M.3    Hansen, R.S.4    Grunnet, M.5    Olesen, S.P.6
  • 37
    • 80052334693 scopus 로고    scopus 로고
    • KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation
    • Ohno S, Zankov DP, Ding WG, Itoh H, Makiyama T, Doi T et al. KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. Circ Arrhythm Electrophysiol 2011;4:352-361.
    • (2011) Circ Arrhythm Electrophysiol , vol.4 , pp. 352-361
    • Ohno, S.1    Zankov, D.P.2    Ding, W.G.3    Itoh, H.4    Makiyama, T.5    Doi, T.6
  • 38
    • 0034598810 scopus 로고    scopus 로고
    • Modulation of A-type potassium channels by a family of calcium sensors
    • An WF, Bowlby MR, Betty M, Cao J, Ling HP, Mendoza G et al. Modulation of A-type potassium channels by a family of calcium sensors. Nature 2000; 403: 553-556.
    • (2000) Nature , vol.403 , pp. 553-556
    • An, W.F.1    Bowlby, M.R.2    Betty, M.3    Cao, J.4    Ling, H.P.5    Mendoza, G.6
  • 39
    • 0035968232 scopus 로고    scopus 로고
    • Conserved Kv4 N-terminal domain critical for effects of Kv channel-interacting protein 2.2 on channel expression and gating
    • Bahring R, Dannenberg J, Peters HC, Leicher T, Pongs O, Isbrandt D. Conserved Kv4 N-terminal domain critical for effects of Kv channel-interacting protein 2.2 on channel expression and gating. J Biol Chem 2001;276:23888-23894.
    • (2001) J Biol Chem , vol.276 , pp. 23888-23894
    • Bahring, R.1    Dannenberg, J.2    Peters, H.C.3    Leicher, T.4    Pongs, O.5    Isbrandt, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.