Multiple mechanisms of Na+ channel-linked long-QT syndrome

Circulation Research

Volumn 78, Issue 5, 1996, Pages 916-924

  Dumaine, Robert ^a   Wang, Qing ^b   Keating, Mark T ^b   Hartmann, Hali A ^c   Schwartz, Peter J ^d   Brown, Arthur M ^a   Kirsch, Glenn E ^a,e  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF PAVIA   (Italy)

^e METROHEALTH MEDICAL CENTER   (United States)

Author keywords

cardiac arrhythmia; human heart; Na channels; Romano Ward syndrome; site directed mutagenesis

Indexed keywords

SODIUM CHANNEL;

ACTION POTENTIAL; ARTICLE; BASAL CELL NEVUS SYNDROME; BIOPHYSICS; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HEART ARRHYTHMIA; HEART DEPOLARIZATION; HUMAN; HUMAN TISSUE; LONG QT SYNDROME; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

EID: 0029988774     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.78.5.916     Document Type: Article

References (45)

1. Schwartz PJ, Locati EH, Napolitano C, Priori SG. The long QT syndrome. In: Zipes DP, Jalife J, eds. Cardiac Electrophysiology: From Cell to Bedside. 2nd ed. Philadelphia, Pa: WB Saunders Co; 1995:788-811.
2. Gavrilescu S, Luca C. Right ventricular monophasic action potentials in patients with long QT syndrome. Br Heart J. 1978;40:1014-1018.
3. Schlechter E, Freeman CC, Lazzara R. Afterdepolarizations as a mechanism for long QT syndrome: electrophysiologic studies of a case. J Am Coll Cardiol. 1984;3:1556-1561.
4. Bonatti V, Rolli A, Botti G. Monophasic action potential studies in human subjects with prolonged ventricular repolarization and long QT syndromes. Eur Heart J. 1985;6(suppl D):131-143.
5. Shimizu W, One T, Kurita T, Tokuda T, Shimomura K. Epinephrine-induced ventricular premature complexes due to early after-depolarizations and effects of verapamil and propranolol in a patient with congenital long QT syndrome. J Cardiovasc Electrophysiol. 1994;5:438-444.
6. Roden DM, Hoffman BF. Action potential prolongation and induction of abnormal automaticity by low quinidine concentrations in canine Purkinje fibers: relationship to potassium and cycle length. Circ Res. 1985;56:857-867.
7. Kaseda S, Gilmour RFJ, Zipes DP. Depressant effect of magnesium on early afterdepolarizations and triggered activity induced by cesium, quinidine and 4-aminopyridine in canine cardiac Purkinje fibers. Am Heart J. 1989;118:458-466.
8. Davidenko JM, Cohen L, Goodrow R, Antzelevitch C. Quinidine-induced action potential prolongation, early afterdepolarizations, and triggered activity in canine Purkinje fibers: effects of stimulation rate, potassium, and magnesium. Circulation. 1989;79: 674-686.
9. Bursill JA, Wyse KR, Campbell TJ. Quinidine but not disopyramide prolongs cardiac Purkinje fiber action potentials after a pause. J Cardiovasc Pharmacol. 1994;23:833-837.
10. El-Sherif N, Zeiler RH, Craelius W, Gough WB, Henkin R. QTU prolongation and polymorphic ventricular tachyarrhythmias due to bradycardia-dependent early afterdepolarizations. Circ Res. 1988;63:286-305.
11. Adaniya H, Hayami H, Hiraoka M, Sawanobori T. Effects of magnesium on polymorphic ventricular tachycardias induced by aconitine. J Cardiovasc Electrophysiol. 1994;24:721-729.
12. Attwell D, Cohen I, Eisner D, Ohba M, Ojeda C. The steady state TTX-sensitive ('window') sodium current in cardiac Purkinje fibres. Pflugers Arch. 1979;379:137-142.
13. Gintant GA, Datyner NB, Cohen IS. Slow inactivation of a tetrodotoxin-sensitive current in canine cardiac Purkinje fibers. Biophys J. 1984;45:509-512.
14. Carmeliet E. Slow inactivation of sodium current in rabbit cardiac Purkinje fibres. Pflugers Arch. 1987;408:18-26.
15. Kiyosue T, Arita M. Late sodium current and its contribution to action potential configuration in guinea pig ventricular myocytes. Circ Res. 1989;64:389-397.
16. Ward OC. A new familial cardiac syndrome in children. Ir Med Assoc. 1964;54:103-106.
17. Romano C. Congenital cardiac arrhythmia. Lancet. 1965;1:658-659.
18. Keating MT, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science. 1991;252:704-706.
19. Jiang C, Atkinson D, Towbin JA, Splawski I, Lehmann MH, Li H, Timothy K, Taggart RT, Schwartz PJ, Vincent GM, Moss AJ, Keating MT. Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet. 1994;8:141-147.
20. Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donelly P, Vergnaud G, Bachner L, Moisan JP, Le Marec H, Pascal O. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995;57:1114-1122.
21. Curran ME, Splawski I, Timothy KW, Green ED, Vincent GM, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795-803.
22. Kr potassium channel. Cell. 1995;81:299-307.
23. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Towbin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996;12:17-23.
24. Wang Q, Shen J, Splawski I, Atkinson D, Zhizhong L, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805-811.
25. Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet. 1995;4:1603-1607.
26. + channel α-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet. 1995;68:67-70.
27. +-channel inactivation. Proc Natl Acad Sci USA. 1992;89:10910-10914.
28. Bennett PB, Yazawa K, Makita N, George AL Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 1995;376:683-685.
29. Gellens ME, George AL Jr, Chen L, 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.
30. + channel inactivation gating. Circ Res. 1994;75:114-122.
31. Sarkar G, Sommer SS. The 'megaprimer' method of site-directed mutagenesis. Biotechniques. 1990;8:404-407.
32. Drewe JA, Hartmann HA, Kirsch GE. Potassium channels in mammalian brain: a molecular approach. In: Narahashi T, ed. Ion Channels of Excitable Cells: Methods in Neuroscience. San Diego, Calif: Academic Press Inc; 1994;19:243-260.
33. Schreibmayer W, Lester HA, Dascal N. Voltage clamping of Xenopus laevis oocytes utilizing agarose-cushion electrodes. Pflugers Arch. 1994;426:453-458.
34. Davis LD, Temte JV. Electrophysiological actions of lidocaine on canine ventricular muscle and Purkinje fibers. Circ Res. 1969;24:639-655.
35. Bansal AM, Kugler JD, Pinsky WW, Norberg WW, Frank WE. Torsade de pointes: successful acute control by lidocaine and chronic control by tocainide in two patients - one each with acquired long QT and the congenital long QT syndrome. Am Heart J. 1986;112:618-621.
36. Sakurada H, Tejima T, Hiyoshi Y, Motomiya T, Hiraoka M. Association of humps on monophasic action potentials and ST-T alternans in a patient with Romano-Ward syndrome. Pacing Clin Electrophysiol. 1991;14:1485-1491.
37. Hasegawa J, Takami T, Kaneda T, Yamane W, Hoshio A, Igawa O, Fujimoto Y, Kotake H, Mashiba H. Treatment of torsades de pointes with intravenous magnesium in idiopathic long QT syndrome. Jpn Circ J. 1991;55:1057-1060.
38. Zhou JT, Zheng LR, Liu WY. Role of early afterdepolarization in familial long QTU syndrome and torsade de pointes. Pacing Clin Electrophysiol. 1992;15:2164-2168.
39. + channel blockade and to increases in heart rate: implications for gene-specific therapy. Circulation. 1995;92:3381-3386.
40. Patlak JB, Ortiz M. Slow currents through single sodium channels of the adult rat heart. J Gen Physiol. 1985;86:89-104.
41. Moorman JR, Kirsch GE, VanDongen AMJ, Joho RH, Brown AM. Fast and slow gating of sodium channels encoded by a single mRNA. Neuron. 1990;4:243-252.
42. Nilius B. Modal gating behavior of cardiac sodium channels in cell-free membrane patches. Biophys J. 1988;53:857-862.
43. Sakakibara Y, Wasserstrom JA, Furukawa T, Jia H, Arentzen CE, Hartz RS, Singer DH. Characterization of sodium current in single human atrial myocytes. Circ Res. 1992;71:535-546.
44. Kunze DL, Lacerda AE, Wilson DL, Brown AM. Cardiac Na currents and the inactivating, reopening, and waiting properties of single cardiac Na channels. J Gen Physiol. 1985;86:691-719.
45. Kirsch GE, Brown AM. Kinetic properties of single sodium channels in rat heart and rat brain. J Gen Physiol. 1989;93:85-99.