In silico assessment of Y1795C and Y1795H SCN5A mutations: Implication for inherited arrhythmogenic syndromes

American Journal of Physiology - Heart and Circulatory Physiology

Volumn 292, Issue 1, 2007, Pages

  Vecchietti, Stefania ^a   Grandi, Eleonora ^a   Severi, Stefano ^a   Rivolta, Ilaria ^b   Napolitano, Carlo ^b   Priori, Silvia G ^b   Cavalcanti, Silvio ^a,c  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b IRCCS   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Antiarrhythmic drugs; Arrhythmias; Computer modeling; Genetics; Sodium channel

Indexed keywords

DELAYED RECTIFIER POTASSIUM CHANNEL; FLECAINIDE; MEXILETINE;

ACTION POTENTIAL; ARRHYTHMOGENESIS; ARTICLE; BRADYCARDIA; BRUGADA SYNDROME; COMPUTER MODEL; CONTROLLED STUDY; DRUG MECHANISM; HUMAN; HUMAN CELL; INHERITANCE; LONG QT SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SODIUM CURRENT; ST SEGMENT ELEVATION;

ACTION POTENTIALS; ADOLESCENT; ADULT; ARRHYTHMIA; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; FEMALE; HEART CONDUCTION SYSTEM; HEART RATE; HEART VENTRICLES; HUMANS; ION CHANNEL GATING; MALE; MIDDLE AGED; MODELS, CARDIOVASCULAR; MUSCLE PROTEINS; MUTATION; MYOCYTES, CARDIAC; SODIUM CHANNELS; STRUCTURE-ACTIVITY RELATIONSHIP; SYNDROME;

EID: 33846231066     PISSN: 03636135     EISSN: 15221539     Source Type: Journal    
DOI: 10.1152/ajpheart.00270.2006     Document Type: Article

References (50)

1. to. Am J Physiol Heart Circ Physiol 286: H602-H609, 2004.
2. Antzelevitch C, Fish J. Electrical heterogeneity within the ventricular wall. Basic Res Cardiol 96: 517-527, 2001.
3. Banyasz T, Fulop L, Magyar J, Szentandrassy N, Varro A, Nanasi PP. Endocardial versus epicardial differences in L-type calcium current in canine ventricular myocytes studied by action potential voltage clamp. Cardiovasc Res 58: 66-75, 2003.
4. Benhorin J, Taub R, Goldmit M, Kerem B, Kass RS, Windman I, Medina A. Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation 101: 1698-1706, 2000.
5. Benndorf K, Nilius B. Inactivation of sodium channels in isolated myocardial mouse cells. Eur Biophys J 15: 117-127, 1987.
6. 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 15: 1391-1396, 1992.
7. Clancy CE, Rudy Y. Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. Nature 400: 566-569, 1999.
8. Clancy CE, Rudy Y. Cellular consequences of HERG mutations in the long QT syndrome: precursors to sudden cardiac death. Cardiovasc Res 50: 301-313, 2001.
9. + channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. Circulation 105: 1208-1213, 2002.
10. Clancy CE, Tateyama M, Kass RS. Insights into the molecular mechanisms of bradycardia-triggered arrhythmias in long QT-3 syndrome. J Clin Invest 110: 1251-1262, 2002.
11. Drouin E, Charpentier F, Gauthier C, Laurent K, Le M. Electrophysiologic characteristics of cells spanning the left ventricular wall of human heart: evidence for presence of M cells. J Am Coll Cardiol 26: 185-192, 1995.
12. Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko DV, Nesterenko VV, Brugada J, Brugada R, Antzelevitch C. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 85: 803-809, 1999.
13. Faber GM, Rudy Y. Action potential and contractility changes in [Na(+)](i) overloaded cardiac myocytes: a simulation study. Biophys J 78: 2392-2404, 2000.
14. Fish JM, Antzelevitch C. Role of sodium and calcium channel block in unmasking the Brugada syndrome. Heart Rhythm 1: 210-2171, 2004.
15. Follmer CH, Cullinan CA, Colatsky TJ. Differential block of cardiac delayed rectifier current by class Ic antiarrhythmic drugs: evidence for open channel block and unblock. Cardiovasc Res 26: 1121-1130, 1992.
16. Gima K, Rudy Y. Ionic current basis of electrocardiographic waveforms: a model study. Circ Res 90: 889-896, 2002.
17. Hancox JC, Convery M. Inhibition of L-type calcium current by flecainide in isolated single rabbit atrioventricular nodal myocytes. Experimental Clin Cardiol 2: 163-170, 1997.
18. Hatem S, Le G, Le H, Couetil JP, Deroubaix E. Differential effects of quinidine and flecainide on plateau duration of human atrial action potential. Basic Res Cardiol 87: 600-609, 1992.
19. Hering S, Bodewei R, Wollenberger A. Sodium current in freshly isolated and in cultured single rat myocardial cells: frequency and voltage-dependent block by mexiletine. J Mol Cell Cardiol 15: 431-444, 1983.
20. Iyer V, Mazhari R, Winslow RL. A computational model of the human left-ventricular epicardial myocyte. Biophys J 87: 1507-1525, 2004.
21. Krishnan SC, Antzelevitch C. Sodium channel block produces opposite electrophysiological effects in canine ventricular epicardium and endocardium. Circ Res 69: 277-291, 1991.
22. Liu DW, Antzelevitch C. Characteristics of the delayed rectifier current (IKr and IKs) in canine ventricular epicardial, midmyocardial, and endocardial myocytes. A weaker IKs contributes to the longer action potential of the M cell. Circ Res 76: 351-365, 1995.
23. Liu DW, Gintant GA, Antzelevitch C. Ionic bases for electrophysiological distinctions among epicardial, midmyocardial, and endocardial myocytes from the free wall of the canine left ventricle. Circ Res 72: 671-687, 1993.
24. Liu H, Tateyama M, Clancy CE, Abriel H, Kass RS. Channel openings are necessary but not sufficient for use-dependent block of cardiac Na(+) channels by flecainide: evidence from the analysis of disease-linked mutations. J Gen Physiol 120: 39-51, 2002.
25. Luo CH, Rudy Y. A dynamic model of the cardiac ventricular action potential. I. Simulations of ionic currents and concentration changes. Circ Res 74: 1071-1096, 1994.
26. Mitcheson JS, Hancox JC. Modulation by mexiletine of action potentials, L-type Ca current and delayed rectifier K current recorded from isolated rabbit atrioventricular nodal myocytes. Pflügers Arch 434: 855-858, 1997.
27. Morita H, Nagase S, Kusano K, Ohe T. Spontaneous T wave alternans and premature ventricular contractions during febrile illness in a patient with Brugada syndrome. J Cardiovasc Electrophysiol 13: 816-818, 2002.
28. Morita H, Zipes DP, Lopshire J, Morita ST, Wu J. T wave alternans in an in vitro canine tissue model of Brugada syndrome. Am J Physiol Heart Circ Physiol 291: H421-H428, 2006.
29. Ohkubo K, Watanabe I, Okumura Y, Yamada T, Masaki R, Kofune T, Oshikawa N, Kasamaki Y, Saito S, Ozawa Y, Kanmatsuse K. Intravenous administration of class i antiarrhythmic drug induced T Wave alternans in an asymptomatic Brugada syndrome patient. Pacing Clin Electrophysiol 26: 1900-1903, 2003.
30. Ono K, Kiyosue T, Arita M. Comparison of the inhibitory effects of mexiletine and lidocaine on the calcium current of single ventricular cells. Life Sci 39: 1465-1470, 1986.
31. Paul AA, Witchel HJ, Hancox JC. Inhibition of the current of heterologously expressed HERG potassium channels by flecainide and comparison with quinidine, propafenone and lignocaine. Br J Pharmacol 136: 717-729, 2002.
32. + channel blockade, beta-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome. Circ Res 78: 1009-1015, 1996.
33. Priori SG, Napolitano C, Schwartz PJ, Bloise R, Crotti L, Ronchetti E. The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation 102: 945-947, 2000.
34. Priori SG, Rivolta I, Napolitano C. Genetics of long QT, Brugada and other channellopathies. In: Cardiac Electrophysiology (4th ed.), edited by Zipes DP and Jalife J, Philadelphia, PA: Elsevier, 2003.
35. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, Kass RS. Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem 276: 30623-30630, 2001.
36. + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 92: 3381-3386, 1995.
37. Schwartz PJ, Priori SG, Napolitano C. The long QT syndrome. In: Cardiac Electrophysiology: From Cell to Bedside. 2000.
38. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze B, Lehmann MH, Schwartz K, Coumel P, Bloise R. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103: 89-95, 2001.
39. Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R. A molecular link between the sudden infant death syndrome and the Long-QT syndrome. N Engl J Med 343: 262-267, 2000.
40. Schwarz JR. The effect of temperature on Na currents in rat myelinated nerve fibres. Pflügers Arch 406: 397-404, 1986.
41. Shampine LF, Reichelt MW. The MATLAB ODE Suite. SIAM J Scientific Comput 18: 1-22, 1997.
42. Shimizu W, Antzelevitch C, Suyama K, Kurita T, Taguchi A, Aihara N, Takaki H, Sunagawa K, Kamakura S. Effect of sodium channel blockers on ST segment, QRS duration, and corrected QT interval in patients with Brugada syndrome. J Cardiovasc Electrophysiol 11: 1320-1329, 2000.
43. Sicouri S, Quist M, Antzelevitch C. Evidence for the presence of M cells in the guinea pig ventricle. J Cardiovasc Electrophysiol 7: 503-511, 1996.
44. + channel blocking actions of flecainide compared with those of propafenone and quinidine in adult rat ventricular myocytes. J Pharmacol Exp Ther 269: 66-74, 1994.
45. ten Tusscher KHWJ, Noble D, Noble PJ, Panfilov AV. A model for human ventricular tissue. Am J Physiol Heart Circ Physiol 286: H1573-H1589, 2004.
46. Tian XL, Yong SL, Wan X, Wu L, Chung MK, Tchou PJ, Rosenbaum DS, Van Wagoner DR, Kirsch GE, Wang Q. Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo. Cardiovasc Res 61: 256-267, 2004.
47. + current. Med Biol Eng Comput 44: 35-44, 2006.
48. Viswanathan PC, Rudy Y. Pause induced early afterdepolarizations in the long QT syndrome: a simulation study. Cardiovasc Res 42: 530-542, 1999.
49. + current of guinea-pig ventricular myocytes. J Mol Cell Cardiol 28: 893-903, 1996.
50. Yan GX, Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation 100: 1660-1666, 1999.