Genetic mutations and arrhythmia: simulation from DNA to electrocardiogram

Journal of Electrocardiology

Volumn 40, Issue 6 SUPPL. 1, 2007, Pages

  Zhu, Zheng I ^a   Clancy, Colleen E ^b  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

^b NONE

Author keywords

Arrhythmia; Cardiac ion channel mutation; Na+ channel blockers

Indexed keywords

DNA; FLECAINIDE; ION CHANNEL; SODIUM CHANNEL; SODIUM CHANNEL BLOCKING AGENT;

ALPHA CHAIN; ARTICLE; BRUGADA SYNDROME; CHANNEL GATING; DISEASE PREDISPOSITION; ELECTRIC CONDUCTIVITY; ELECTROCARDIOGRAM; GENE; GENE IDENTIFICATION; GENE MUTATION; HEART ARRHYTHMIA; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; LONG QT SYNDROME; NONHUMAN; PRIORITY JOURNAL; SCN5A GENE; SICK SINUS SYNDROME; SIMULATION;

ACTION POTENTIALS; ANIMALS; ARRHYTHMIAS, CARDIAC; COMPUTER SIMULATION; DNA; ELECTROENCEPHALOGRAPHY; GENETIC PREDISPOSITION TO DISEASE; HEART CONDUCTION SYSTEM; HUMANS; ION CHANNEL GATING; ION CHANNELS; MEMBRANE POTENTIALS; MODELS, CARDIOVASCULAR; MODELS, GENETIC; MUTATION;

EID: 35748932348     PISSN: 00220736     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jelectrocard.2007.05.033     Document Type: Article

References (56)

1. Grant A.O., Carboni M.P., Neplioueva V., et al. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 110 (2002) 1201
2. Benson D.W., Wang D.W., Dyment M., et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 112 (2003) 1019
3. Bennett P.B., Yazawa K., Makita N., and George Jr. A.L. Molecular mechanism for an inherited cardiac arrhythmia. Nature 376 (1995) 683
4. Tan H.L., Bink-Boelkens M.T.E., Bezzina C.R., et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 409 (2001) 1043
5. Veldkamp M.W., Viswanathan P.C., Bezzina C., Baartscheer A., Wilde A.A.M., and Balser J.R. Two distinct congenital arrhythmias evoked by a multidysfunctional Na+ channel. Circ Res 86 (2000) E91
6. Viswanathan P.C., Veldkamp M.W., Connie C., Wilde A.A.M., and Balser J.R. A molecular mechanism for class IA drug intolerance in the Brugada syndrome. Circulation 102 (2000) 264
7. Clancy C.E., and Kass R.S. Inherited and acquired vulnerability to ventricular arrhythmias: cardiac Na+ and K+ channels. Physiol Rev 85 (2005) 33
8. Chen Q.Y., Kirsch G.E., Zhang D.M., et al. Genetic basis and molecular mechanism for idiopathic: ventricular fibrillation. Nature 392 (1998) 293
9. Zhu Z.I., and Clancy C.E. From mutation to clinical presentation: mechanisms in the black box. J Mol Cell Cardiol 38 (2005) 965
10. Balser J.R. The cardiac sodium channel: gating function and molecular pharmacology. J Mol Cell Cardiol 33 (2001) 599
11. Glaaser I.W., Kass R.S., and Clancy C.E. Mechanisms of genetic arrhythmias: from DNA to ECG. Prog Cardiovasc Dis 46 (2003) 259
12. Wang D.W., Makita N., Kitabatake A., Balser J.R., and George A.L. Enhanced Na+ channel intermediate inactivation in Brugada syndrome. Circ Res 87 (2000) E37
13. Dumaine R., Towbin J.A., Brugada P., et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 85 (1999) 803
14. Rivolta I., Abriel H., Tateyama M., et al. 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 (2001) 30623
15. Clancy C.E., and Rudy Y. Na+ channel mutation that causes both Brugada and long-QT syndrome phenotypes-a simulation study of mechanism. Circulation 105 (2002) 1208
16. Deschenes I., Baroudi G., Berthet M., et al. Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res 46 (2000) 55
17. Shirai N., Makita N., Sasaki K., et al. A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. Cardiovasc Res 53 (2002) 348
18. Makita N., Shirai N., Wang D.W., et al. Cardiac Na+ channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. Circulation 101 (2000) 54
19. Rook M.B., Bezzina Alshinawi C., Groenewegen W.A., et al. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res 44 (1999) 507
20. Tan H.L., Kupershmidt S., Zhang R., et al. A calcium sensor in the sodium channel modulates cardiac excitability. Nature 415 (2002) 442
21. Zhang Z.-S., Tranquillo J., Neplioueva V., Bursac N., and Grant A.O. Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease. Am J Physiol Heart Circ Physiol 292 (2007) H399
22. Wei J., Wang D.W., Alings M., et al. Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation 99 (1999) 3165
23. Rivolta I., Clancy C.E., Tateyama M., Liu H.J., Priori S.G., and Kass R.S. A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction. Physiol Genomics 10 (2002) 191
24. Clancy C.E., Tateyama M., Liu H., Wehrens X.H.T., and Kass R.S. Non-equilibrium gating in cardiac Na+ channels: an original mechanism of arrhythmia. Circulation 107 (2003) 2233
25. Rosen M.R., and Wit A.L. Electropharmacology of anti-arrhythmic drugs. Am Heart J 106 (1983) 829
26. Rosen M.R., Hoffman B.F., and Wit A.L. Electrophysiology and pharmacology of cardiac-arrhythmias. 5. Cardiac antiarrhythmic effects of lidocaine. Am Heart J 89 (1975) 526
27. Wit A.L., and Rosen M.R. Pathophysiologic mechanisms of cardiac-arrhythmias. Am Heart J 106 (1983) 798
28. Rosen M.R., and Wit A.L. Arrhythmogenic actions of antiarrhythmic drugs. Am J Cardiol 59 (1987) E10
29. Weissenburger J., Davy J.M., and Chezalviel F. Experimental models of torsades de pointes. Fundam Clin Pharmacol 7 (1993) 29
30. Ragsdale D.S., McPhee J.C., Scheuer T., and Catterall W.A. Molecular determinants of state-dependent block of Na+ channels by local anesthetics. Science 265 (1994) 1724
31. Ragsdale D.S., McPhee J.C., Scheuer T., and Catterall W.A. Common molecular determinants of local anesthetic, antiarrhythmic, and anticonvulsant block of voltage-gated Na+ channels. Proc Natl Acad Sci U S A 93 (1996) 9270
32. Hille B. Local-anesthetics-hydrophilic and hydrophobic pathways for drug-receptor reaction. J Gen Physiol 69 (1977) 497
33. Hille B. Ph-dependent rate of action of local-anesthetics on node of Ranvier. J Gen Physiol 69 (1977) 475
34. Ragsdale D.S., Numann R., Catterall W.A., and Scheuer T. Inhibition of Na+ channels by the novel blocker Pd85,639. Mol Pharmacol 43 (1993) 949
35. Ragsdale D.S., Scheuer T., and Catterall W.A. Frequency and voltage-dependent inhibition of type-IIA Na+-channels, expressed in a mammalian-cell line, by local-anesthetic, antiarrhythmic, and anticonvulsant drugs. Mol Pharmacol 40 (1991) 756
36. Lundbaek J.A., Birn P., Tape S.E., et al. Capsaicin regulates voltage-dependent sodium channels by altering lipid bilayer elasticity. Mol Pharmacol 68 (2005) 680
37. Fukuda K., Nakajima T., Viswanathan P.C., and Balser J.R. Compound-specific Na+ channel pore conformational changes induced by local anaesthetics. J Physiol (Lond) 564 (2005) 21
38. Gasparini M., Priori S.G., Mantica M., et al. Flecainide test in Brugada syndrome: a reproducible but risky tool. Pacing Clin Electrophysiol 26 (2003) 338
39. Priori S.G., Napolitano C., Schwartz P.J., Bloise R., Crotti L., and Ronchetti E. The thin border between long QT and Brugada syndromes: the role of flecainide challenge. Circulation 102 (2000) 676
40. Priori S.G., Napolitano C., Schwartz P.J., Bloise R., Crotti L., and Ronchetti E. The elusive link between LQT3 and Brugada syndrome-the role of flecainide challenge. Circulation 102 (2000) 945
41. Priori S.G. Long QT and Brugada syndromes: from genetics to clinical management. J Cardiovasc Electrophysiol 11 (2000) 1174
42. Abriel H., Wehrens X.H.T., Benhorin J., Kerem B., and Kass R.S. Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome. Circulation 102 (2000) 921
43. Grant A.O., Chandra R., Keller C., Carboni M., and Starmer C.F. Block of wild-type and inactivation-deficient cardiac sodium channels IFM/QQQ stably expressed in mammalian cells. Biophys J 79 (2000) 3019
44. Liu H., Atkins J., and Kass R.S. Common molecular determinants of flecainide and lidocaine block of heart Na+ channels: evidence from experiments with neutral and quaternary flecainide analogues. J Gen Physiol 121 (2003) 199
45. Viswanathan P.C., Bezzina C.R., George A.L., Roden D.M., Wilde A.A.M., and Balser J.R. Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes. Circulation 104 (2001) 1200
46. Opdal S.H., and Rognum T.O. The sudden infant death syndrome gene: does it exist?. Pediatrics 114 (2004) e506
47. Fozzard H.A., Lee P.J., and Lipkind G.M. Mechanism of local anesthetic drug action on voltage-gated sodium channels. Curr Pharm Des 11 (2005) 2671
48. Salama G., and London B. Mouse models of long QT syndrome. J Physiol 578 (2007) 43
49. Head C.E., Balasubramaniam R., Thomas G., et al. Paced electrogram fractionation analysis of arrhythmogenic tendency in DeltaKPQ Scn5a mice. J Cardiovasc Electrophysiol 16 (2005) 1329
50. Remme C.A., Verkerk A.O., Nuyens D., et al. Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. Circulation 114 (2006) 2584
51. Rudy Y. From genome to physiome: integrative models of cardiac excitation. Ann Biomed Eng 28 (2000) 945
52. Rudy Y., and Silva J.R. Computational biology in the study of cardiac ion channels and cell electrophysiology. Q Rev Biophys 39 (2006) 57
53. Noble D. From genes to whole organs: connecting biochemistry to physiology. Complex Biol Inf Process 239 (2001) 111
54. Noble D. Modelling the heart: insights, failures and progress. Bioessays 24 (2002) 1155
55. Clancy C.E., Zhu Z.I., and Rudy Y. Pharmacogenetics and anti-arrhythmic drug therapy: a theoretical investigation. Am J Physiol Heart Circ Physiol 292 (2007) H66
56. Gima K., and Rudy Y. Ionic current basis of electrocardiographic waveforms-a model study. Circ Res 90 (2002) 889