Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome

Circulation: Arrhythmia and Electrophysiology

Volumn 6, Issue 1, 2013, Pages 177-184

  Calloe, Kirstine ^a   Refaat, Marwan M ^b   Grubb, Soren ^a   Wojciak, Julianne ^b   Campagna, Joan ^b   Thomsen, Nancy Mutsaers ^a   Nussbaum, Robert L ^b   Scheinman, Melvin M ^b   Schmitt, Nicole ^a  

^a DANISH NATIONAL RESEARCH FOUNDATION   (Denmark)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Arrhythmia; Brugada syndrome; Electrophysiology; Mutation; SCN5A; Sodium

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL NAV1.5; SCN5A PROTEIN, HUMAN;

ADULT; ANIMAL CELL; ARTICLE; BRUGADA SYNDROME; CASE REPORT; DIRECT CURRENT; DISEASE ASSOCIATION; ELECTROCARDIOGRAPHY; ELECTROPHYSIOLOGY; EXERCISE; FAINTNESS; FAMILY HISTORY; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC TRANSFECTION; HAMSTER; HAPLOINSUFFICIENCY; HEART ATRIUM FLUTTER; HEART VENTRICLE TACHYCARDIA; HETEROLOGOUS EXPRESSION; HETEROZYGOTE; HUMAN; KINETICS; LOSS OF FUNCTION MUTATION; MALE; MUTANT; NONHUMAN; PR INTERVAL; PRIORITY JOURNAL; REST; SITE DIRECTED MUTAGENESIS; SUDDEN DEATH; WHOLE CELL; WILD TYPE; ACTION POTENTIAL; ANIMAL; CHO CELL; CRICETULUS; FEMALE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE;

ACTION POTENTIALS; ADULT; ANIMALS; BRUGADA SYNDROME; CHO CELLS; CRICETINAE; CRICETULUS; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMANS; KINETICS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; TRANSFECTION;

MLCS; MLOWN;

EID: 84876338437     PISSN: 19413149     EISSN: 19413084     Source Type: Journal    
DOI: 10.1161/CIRCEP.112.974220     Document Type: Article

References (20)

1. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992;20:1391-1396.
2. Scheinman MM. Is the Brugada syndrome a distinct clinical entity? J Cardiovasc Electrophysiol. 1997;8:332-336.
3. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Brugada syndrome: report of the second consensus conference. Heart Rhythm. 2005;2:429-440.
4. Benito B, Sarkozy A, Mont L, Henkens S, Berruezo A, Tamborero D, Arzamendi D, Berne P, Brugada R, Brugada P, Brugada J. Gender differences in clinical manifestations of Brugada syndrome. J Am Coll Cardiol. 2008;52:1567-1573.
5. Matsuo K, Kurita T, Inagaki M, Kakishita M, Aihara N, Shimizu W, Taguchi A, Suyama K, Kamakura S, Shimomura K. The circadian pattern of the development of ventricular fibrillation in patients with Brugada syndrome. Eur Heart J. 1999;20:465-470.
6. Antzelevitch C, Brugada R. Fever and Brugada syndrome. Pacing Clin Electrophysiol. 2002;25:1537-1539.
7. Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, Guicheney P, Madle A, Fromer M, Schläpfer J, Abriel H. Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res. 2005;67:510-519.
8. Gehi AK, Duong TD, Metz LD, Gomes JA, Mehta D. Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis. J Cardiovasc Electrophysiol. 2006;17:577-583.
9. Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV, Albertson RM, Antzelevitch C, Schwartz PJ, Ackerman MJ. 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.
10. Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M. The genetic basis of Brugada syndrome: a mutation update. Hum Mutat. 2009;30:1256-1266.
11. Barajas-Martínez H, Hu D, Ferrer T, Onetti CG, Wu Y, Burashnikov E, Boyle M, Surman T, Urrutia J, Veltmann C, Schimpf R, Borggrefe M, Wolpert C, Ibrahim BB, Sánchez-Chapula JA, Winters S, Haïssaguerre M, Antzelevitch C. Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. Heart Rhythm. 2012;9:548-555.
12. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD, Guerchicoff A, Laiño R, Marieb M, Nademanee K, Nam GB, Robles R, Schimpf R, Stapleton DD, Viskin S, Winters S, Wolpert C, Zimmern S, Veltmann C, Antzelevitch C. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010;7:1872-1882.
13. Makiyama T, Akao M, Haruna Y, Tsuji K, Doi T, Ohno S, Nishio Y, Kita T, Horie M. Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. Circ J. 2008;72:1705-1706.
14. Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, Dilanian G, Martins RP, Fressart V, Berthet M, Schott JJ, Leenhardt A, Probst V, Le Marec H, Hainque B, Coulombe A, Hatem SN, Guicheney P. MOG1: a new susceptibility gene for Brugada syndrome. Circ Cardiovasc Genet. 2011;4:261-268.
15. Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, Barchi RL, Kallen RG. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci USA. 1992;89:554-558.
16. Hartmann HA, Tiedeman AA, Chen SF, Brown AM, Kirsch GE. Effects of III-IV linker mutations on human heart Na+ channel inactivation gating. Circ Res. 1994;75:114-122.
17. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010;7:33-46.
18. Wilde AA, Brugada R. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res. 2011;108:884-897.
19. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
20. Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, Deschênes I. A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm. 2011;8:455-462.