Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

Journal of Molecular and Cellular Cardiology

Volumn 46, Issue 5, 2009, Pages 695-703

  Cordeiro, Jonathan M ^a   Marieb, Mark ^b   Pfeiffer, Ryan ^a   Calloe, Kirstine ^c   Burashnikov, Elena ^a   Antzelevitch, Charles ^a  

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b Arrhythmia Center of Connecticut   (United States)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Arrhythmia; Brugada syndrome; Calcium; Genetics; Ion channels

Indexed keywords

ANION CHANNEL; CALCIUM CHANNEL L TYPE; GENOMIC DNA; ISOLEUCINE; PROCAINAMIDE; THREONINE;

ACTION POTENTIAL; ADULT; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CELL LINE; DNA ISOLATION; ELECTROCARDIOGRAM; EXON; GENE AMPLIFICATION; GENE EXPRESSION; GENE SEQUENCE; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN CELL; IMPLANT; INTRON; LYMPHOCYTE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; PRECORDIAL PAIN; PRIORITY JOURNAL; ST SEGMENT ELEVATION; STEADY STATE; SYNCOPE; VOLTAGE CLAMP;

ADULT; ANIMALS; BASE SEQUENCE; BRUGADA SYNDROME; CALCIUM CHANNELS, L-TYPE; DNA MUTATIONAL ANALYSIS; DOGS; HUMANS; ION CHANNEL GATING; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PATCH-CLAMP TECHNIQUES; TIME FACTORS;

SYNCOPE;

EID: 63349104489     PISSN: 00222828     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.yjmcc.2009.01.014     Document Type: Article

References (35)

1. Brugada P., and 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. 20 (1992) 1391-1396
2. Chen Q., Kirsch G.E., Zhang D., Brugada R., Brugada J., Brugada P., Potenza D., Moya A., Borggrefe M., Breithardt G., Ortiz-Lopez R., Wang Z., Antzelevitch C., O'Brien R.E., Schultze-Bahr E., Keating M.T., Towbin J.A., and Wang Q. Genetic basis and molecular mechanisms for idiopathic ventricular fibrillation. Nature 392 (3-19-1998) 293-296
3. Bezzina C.R., Rook M.B., and Wilde A.A. Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc. Res. 49 (2-1-2001) 257-271
4. + current and causes inherited arrhythmias. Circulation 116 (11-13-2007) 2260-2268
5. Van Norstrand D.W., Valdivia C.R., Tester D.J., Ueda K., London B., Makielski J.C., and Ackerman M.J. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 116 (11-13-2007) 2253-2259
6. Watanabe H., Koopmann T.T., Le S.S., Yang T., Ingram C.R., Schott J.J., Demolombe S., Probst V., Anselme F., Escande D., Wiesfeld A.C., Pfeufer A., Kaab S., Wichmann H.E., Hasdemir C., Aizawa Y., Wilde A.A., Roden D.M., and Bezzina C.R. Sodium channel b1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118 (2008) 2260-2268
7. Delpón E., Cordeiro J.M., Núñez L., Thomsen P.E.B., Guerchicoff A., Pollevick G.D., Wu Y., Kanters J.K., Larsen C.T., Burashnikov A., Christiansen M., and Antzelevitch C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythm. Electrophysiol. 1 (2008) 209-218
8. Fish J.M., and Antzelevitch C. Role of sodium and calcium channel block in unmasking the Brugada syndrome. Heart Rhythm 1 (2004) 210-217
9. Antzelevitch C., Pollevick G.D., Cordeiro J.M., Casis O., Sanguinetti M.C., Aizawa Y., Guerchicoff A., Pfeiffer R., Oliva A., Wollnik B., Gelber P., Bonaros Jr. E.P., Burashnikov E., Wu Y., Sargent J.D., Schickel S., Oberheiden R., Bhatia A., Hsu L.F., Haissaguerre M., Schimpf R., Borggrefe M., and Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 115 (1-15-2007) 442-449
10. Antzelevitch C. Brugada syndrome. Pacing Clin. Electrophysiol. 29 (2006) 1130-1159
11. Dumaine R., Towbin J.A., Brugada P., Vatta M., Nesterenko D.V., Nesterenko V.V., Brugada J., Brugada R., and Antzelevitch C. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ. Res. 85 (10-29-1999) 803-809
12. Catterall W.A., Perez-Reyes E., Snutch T.P., and Striessnig J. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. Pharmacol. Rev. 57 (2005) 411-425
13. 2+ signaling. Cell Calcium 38 (2005) 223-231
14. Cordeiro J.M., Marieb M., Pfeiffer R., Calloe K., Burashnikov E., and Antzelevitch C. Accelerated inactivation of the L-type calcium due to a mutation in CACNB2b underlies the development of a Brugada ECG phenotype. Circulation 118 (2008) S884-S885
15. v1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119 (10-1-2004) 19-31
16. Splawski I., Timothy K.W., Decher N., Kumar P., Sachse F.B., Beggs A.H., Sanguinetti M.C., and Keating M.T. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Natl. Acad. Sci. U. S. A. 102 (6-7-2005) 8089-8096
17. Cordeiro J.M., Greene L., Heilmann C., Antzelevitch D., and Antzelevitch C. Transmural heterogeneity of calcium activity and mechanical function in the canine left ventricle. Am. J. Physiol Heart Circ. Physiol. 286 (2004) H1471-H1479
18. Cordeiro J.M., Malone J.E., Di Diego J.M., Scornik F.S., Aistrup G.L., Antzelevitch C., and Wasserstrom J.A. Cellular and subcellular alternans in the canine left ventricle. Am. J. Physiol Heart Circ. Physiol. (9-28-2007)
19. Van P.F., Clark K.A., Chatelain F.C., and Minor Jr. D.L. Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain. Nature 429 (6-10-2004) 671-675
20. 2+ current kinetics and cardiac wave stability. Am. J. Physiol Heart Circ. Physiol. 293 (2007) H1805-H1815
21. Hund T.J., and Rudy Y. Rate dependence and regulation of action potential and calcium transient in a canine cardiac ventricular cell model. Circulation 110 (11-16-2004) 3168-3174
22. Yan G.X., and Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST segment elevation. Circulation 100 (10-12-1999) 1660-1666
23. Vatta M., Dumaine R., Varghese G., Richard T.A., Shimizu W., Aihara N., Nademanee K., Brugada R., Brugada J., Veerakul G., Li H., Bowles N.E., Brugada P., Antzelevitch C., and Towbin J.A. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum. Mol. Genet. 11 (2-1-2002) 337-345
24. Verkerk A.O., Wilders R., Schulze-Bahr E., Beekman L., Bhuiyan Z.A., Bertrand J., Eckardt L., Lin D., Borggrefe M., Breithardt G., Mannens M.M., Tan H.L., Wilde A.A., and Bezzina C.R. Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc. Res. 68 (12-1-2005) 441-453
25. Antzelevitch C., Brugada P., Borggrefe M., Brugada J., Brugada R., Corrado D., Gussak I., LeMarec H., Nademanee K., Perez Riera A.R., Shimizu W., Schulze-Bahr E., Tan H., and Wilde A. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 111 (1-17-2005) 659-670
26. Colecraft H.M., Alseikhan B., Takahashi S.X., Chaudhuri D., Mittman S., Yegnasubramanian V., Alvania R.S., Johns D.C., Marban E., and Yue D.T. Novel functional properties of Ca(2+) channel beta subunits revealed by their expression in adult rat heart cells. J. Physiol. 541 (6-1-2002) 435-452
27. 2+ channel inactivation. Biophys. J. 87 (2004) 844-857
28. Dalton S., Takahashi S.X., Miriyala J., and Colecraft H.M. A single CaVbeta can reconstitute both trafficking and macroscopic conductance of voltage-dependent calcium channels. J. Physiol. 567 (9-15-2005) 757-769
29. Foell J.D., Balijepalli R.C., Delisle B.P., Yunker A.M., Robia S.L., Walker J.W., McEnery M.W., January C.T., and Kamp T.J. Molecular heterogeneity of calcium channel b-subunits in canine and human heart: evidence for differential subcellular localization. Physiol. Genomics 17 (4-13-2004) 183-200
30. 2+ channels by short auxiliary beta1d subunit present in cardiac muscle. Am. J. Physiol Heart Circ. Physiol. 288 (2005) H2363-H2374
31. 2+ release at the T-tubules and surface membrane of rat ventricular myocytes. Circ. Res. 95 (7-9-2004) e1-e7
32. Sah R., Ramirez R.J., Oudit G.Y., Gidrewicz D., Trivieri M.G., Zobel C., and Backx P.H. Regulation of cardiac excitation-contraction coupling by action potential repolarization: role of the transient outward potassium current (I(to)). J. Physiol. 546 (1-1-2003) 5-18
33. Bers D.M. Cardiac excitation-contraction coupling. Nature 415 (1-10-2002) 198-205
34. Levi A.J., Spitzer K.W., Kohmoto O., and Bridge J.H. Depolarization-induced Ca entry via Na-Ca exchange triggers SR release in guinea pig cardiac myocytes. Am. J. Physiol. 266 (1994) H1422-H1433
35. Litwin S.E., Li J., and Bridge J.H. Na-Ca exchange and the trigger for sarcoplasmic reticulum Ca release: studies in adult rabbit ventricular myocytes. Biophys. J. 75 (1998) 359-371