Novel LQT-3 mutation affects Na+ channel activity through interactions between α- and β1-subunits

Circulation Research

Volumn 83, Issue 2, 1998, Pages 141-146

  An, R H ^a   Wang, X L ^a   Kerem, B ^b   Benhorin, J ^c   Medina, A ^c   Goldmit, M ^b   Kass, R S ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c BIKUR CHOLIM HOSPITAL   (Israel)

Author keywords

Genetics; Long QT syndrome; Na+ channel

Indexed keywords

ADENINE; ASPARTIC ACID; COMPLEMENTARY DNA; GENE PRODUCT; GLYCINE; GUANINE; SODIUM CHANNEL; SODIUM ION;

AMINO ACID SUBSTITUTION; ARTICLE; CHANNEL GATING; CONTROLLED STUDY; EMBRYO; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HEART REPOLARIZATION; HUMAN; HUMAN CELL; LONG QT SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; PATCH CLAMP; PRIORITY JOURNAL;

EID: 0032572594     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.RES.83.2.141     Document Type: Article

References (43)

1. Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent M, Garso A, Robinson JL, Benhorin J, Choi S. The long QT syndrome: prospective longitudinal study of 328 families. Circulation. 1991;84:1136-1144.
2. Schwartz PJ, Periti M, Malliani A. The long Q-T syndrome. Am Heart J. 1975;89:378-390.
3. Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, Vanraay TJ, Shen J, Timothy KW, Vincent GM, Dejager 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.
4. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80:795-803.
5. Kr potassium channel. Cell. 1995;81:299-307.
6. Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995;57: 1114-1122.
7. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805-811.
8. 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.
9. Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997;17:338-340.
10. Keating MT, Sanguinetti MC. Pathophysiology of ion channel mutations. Curr Opin Genet Dev. 1996;6:326-333.
11. An RH, Bangalore R, Rosero SZ, Kass RS. Lidocaine block of LQT-3 mutant human Na channels. Circ Res. 1996;79:103-108.
12. Compton SJ, Lux RL, Ramsey MR, Strelich KR, Sanguinetti MC, Green LS, Keating MT, Mason JW. Genetically defined therapy of inherited long-QT syndrome: correction of abnormal repolarization by potassium. Circulation. 1996;94:1018-1022.
13. +-channel-linked long-QT syndrome. Circ Res. 1996;78:916-924.
14. Priori SG, Cantu F, Schwartz PJ. The long QT syndrome: new diagnostic and therapeutic approach in the era of molecular biology. Schweiz Med Wochenschr. 1996;126:1727-1731.
15. Wang DW, Yazawa K, Makita N, George AL, Bennett PB. Pharmacological targeting of long QT mutant sodium channels. J Clin Invest. 1997;99:1714-1720.
16. 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 U S A. 1992;89:554-558.
17. Benhorin J, Goldmit M, MacCluer J, Blangero J, Goffen R, Leibovitch A, Rahat A, Wang Q, Medina A, Towbin J, Kerem B. Identification of a new SCN5A mutation associated with the long QT syndrome. Hum Genet. 1997; #153 on line.
18. Bennett PB, Yazawa K, Makita N, George AL. Molecular mechanism for an inherited cardiac arrhythmia. Nature (Lond). 1995;376:683-685.
19. + channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci U S A. 1996;93:13200-13205.
20. Catterall WA. Molecular properties of sodium and calcium channels. J Bioenerg Biomembr. 1996;28:219-230.
21. Hamill OP, Marty A, Neher E, Sakmann B, Sigworth FJ. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch. 1981;391:85-100.
22. Roberts RH, Barchi RL. The voltage-sensitive sodium channel from rabbit skeletal muscle: chemical characterization of subunits. J Biol Chem. 1987;262:2298-2303.
23. Sutkowski EM, Catterall WA. Beta 1 subunits of sodium channels: studies with subunit-specific antibodies. J Biol Chem. 1990;265: 12393-12399.
24. Catterall WA. Structure and function of voltage-gated ion channels. Trends Neurosci. 1993;16:500-506.
25. + channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. J Biol Chem. 1994;269:7571-7578.
26. + channels. J Neurosci. 1996;16:7117-7127.
27. Yang JS, Bennett PB, Makita N, George AL, Barchi RL. Expression of the sodium channel beta 1 subunit in rat skeletal muscle is selectively associated with the tetrodotoxin-sensitive alpha subunit isoform. Neuron. 1993;11:915-922.
28. + channel expression in Xenopus oocytes by beta 1 subunits. J Biol Chem. 1995; 270:25696-25701.
29. Nuss HB, Chiamvimonvat N, Perezgarcia MT, Tomaselli GF, Marban E. Functional association of the beta(1) subunit with human cardiac (hh1) and rat skeletal muscle (mu-1) sodium channel alpha subunits expressed in xenopus oocytes. J Gen Physiol. 1995;106:1171-1191.
30. Makielski JC, Limberis JT, Chang SY, Fan Z, Kyle JW. Coexpression of beta 1 with cardiac sodium channel alpha subunits in oocytes decreases lidocaine block. Mol Pharmacol. 1996;49:30-39.
31. Isom LL, De Jongh KS, Patton DE, Reber BF, Offord J, Charbonneau H, Walsh K, Goldin AL, Catterall WA. Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel. Science. 1992;256:839-842.
32. Cohen SA, Levitt LK. Partial characterization of the rH1 sodium channel protein from rat heart using subtype-specific antibodies. Circ Res. 1993; 73:735-742.
33. Hanck DA, Sheets MF. Modification of inactivation in cardiac sodium channels: ionic current studies with anthopleurin-A toxin. J Gen Physiol. 1995;106:601-616.
34. Sheets MF, Hanck DA. Voltage-dependent open-state inactivation of cardiac sodium channels: gating current studies with anthopleurin-A toxin. J Gen Physiol. 1995;106:617-640.
35. Lawrence JH, Yue DT, Rose WC, Marban E. Sodium channel inactivation from resting states in guinea-pig ventricular myocytes. J Physiol. 1991;443:629-650.
36. + channels. Physiol Rev. 1991;71:1047-1080.
37. + channels must deactivate to recover from inactivation. Neuron. 1994;12:819-829.
38. Merri M, Benhorin J, Alberti M, Locati E, Moss AJ. Electrocardiographic quantitation of ventricular repolarization. Circulation. 1989;80: 1301-1308.
39. Benhorin J, Kaiman YM, Medina A, Towbin J, Rave-Harel N, Dyer TD, MacCluer JW, Kerem BS. Evidence of genetic heterogeneity in the long QT syndrome. Science. 1993;260:1960-1962.
40. + channel. J Physiol (Lond). 1997;498:641-648.
41. + current in pacemaker cells isolated from rabbit sinoatrial node. Am J Physiol. 1996;270:H2108-H2119.
42. Honjo H, Boyett MR, Kodama I, Toyama J. Correlation between electrical activity and the size of rabbit sino-atrial node cells. J Physiol (Lond). 1996;496:795-808.
43. Hille B. Local anesthetics: hydrophilic and hydrophobic pathways for the drug-receptor reaction. J Gen Physiol. 1977;69:497-515.