Inherited Brugada and Long QT-3 Syndrome Mutations of a Single Residue of the Cardiac Sodium Channel Confer Distinct Channel and Clinical Phenotypes

Journal of Biological Chemistry

Volumn 276, Issue 33, 2001, Pages 30623-30630

  Rivolta, Ilaria ^a   Abriel, Hugues ^a   Tateyama, Michihiro ^a   Liu, Huajun ^a   Memmi, Mirella ^b   Vardas, Panos ^c   Napolitano, Carlo ^b   Priori, Silvia G ^b   Kass, Robert S ^a  

^a Columbia University ^*  (United States)

^b IRCCS   (Italy)

^c UNIVERSITY HOSPITAL OF HERAKLION   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

DISEASES; ELECTRIC POTENTIAL; GENES; MUTAGENESIS; REACTION KINETICS; SODIUM;

GENE ENCODING; MUTATIONS;

BIOCHEMISTRY;

SODIUM CHANNEL; VOLTAGE GATED NA+ CHANNEL NA(V)1.5A; VOLTAGE-GATED NA+ CHANNEL NA(V)1.5A;

ADULT; ALPHA CHAIN; ARTICLE; BIOPHYSICS; BRUGADA SYNDROME; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHANNEL GATING; CODON; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LONG QT SYNDROME; MALE; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCN5A GENE; ST SEGMENT ELEVATION; GENETICS; HEART BLOCK; MUTATION; PHYSIOLOGY;

HEART BLOCK; HUMANS; LONG QT SYNDROME; MUTATION; PHENOTYPE; SODIUM CHANNELS;

EID: 0035903135     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M104471200     Document Type: Article

References (38)

1. Bezzina, C., Veldkamp, M. W., Van Den Berg, M. P., Postma, A. V., Rook, M. B., Viersma, J. W., Van Langen, I. M., Tan-Sindhunata, G., Bink-Boelkens, M. T., Der Hout, A. H., Mannens, M. M., and Wilde, A. A. (1999) Circ. Res. 85, 1206-1213
2. Schott, J. J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A., Escande, D., Mannens, M. M., and Le Marec, H. (1999) Nat. Genet. 23, 20-21
3. Tan, H. L., Bink-Boelkens, M. T., Bezzina, C. R., Viswanathan, P. C., Beaufort-Krol, G. C., van Tintelen, P. J., van den Berg, M. P., Wilde, A. A., and Balser, J. R. (2001) Nature 409, 1043-1047
4. Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L., Moss, A. J., Towbin, J. A., and Keating, M. T. (1995) Cell 80, 805-811
5. 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., Schulze-Bahr, E., Keating, M. T., Towbin, J. A., and Wang, Q. (1998) Nature 392, 293-296
6. Schwartz, P. J., Priori, S. G., Dumaine, R., Napolitano, C., Antzelevitch, C., Stramba-Badiale, M., Richard, T. A., Berti, M. R., and Bloise, R. (2000) N. Engl. J. Med. 343, 262-267
7. Priori, S. G., Napolitano, C., Giordano, U., Collisani, G., and Memmi, M. (2000) Lancet 355, 808-809
8. Priori, S. G., Napolitano, C., Schwartz, P. J., Bloise, R., Crotti, L., and Ronchetti, E. (2000) Circulation 102, 945-947
9. Priori, S. G. (2000) J. Cardiovasc. Electrophysiol. 11, 1174-1178
10. Moss, A. J., Zareba, W., Hall, W. J., Schwartz, P. J., Crampton, R. S., Benhorin, J., Vincent, G. M., Locati, E. H., Priori, S. G., Napolitano, C., Medina, A., Zhang, L., Robinson, J. L., Timothy, K., Towbin, J. A., and Andrews, M. L., (2000) Circulation 101, 616-623
11. Priori, S. G., Napolitano, C., Gasparini, M., Pappone, C., Della, B. P., Brignole, M., Giordano, U., Giovannini, T., Menozzi, C., Bloise, R., Crotti, L., Terreni, L., and Schwartz, P. J. (2000) Circulation 102, 2509-2515
12. Wilde, A. A., and Priori, S. G. (2000) Eur. Heart J. 21, 1483-1484
13. Bezzina, C. R., Rook, M. B., and Wilde, A. A. (2001) Cardiovasc. Res. 49, 257-271
14. Baroudi, G., and Chahine, M. (2000) FEBS Lett. 487, 224-228
15. Bennett, P. B., Jr., Makita, N., and George, A. L., Jr. (1993) FEBS Lett. 326, 21-24
16. Clancy, C. E., and Rudy, Y. (1999) Nature 400, 566-569
17. Antzelevitch, C. (1999) Curr. Opin. Cardiol. 14, 274-279
18. Dumaine, R., Towbin, J. A., Brugada, P., Vatta, M., Nesterenko, D. V., Nesterenko, V. V., Brugada, J., Brugada, R., and Antzelevitch, C. (1999) Circ. Res. 85, 803-809
19. Gussak, I., Antzelevitch, C., Bjerregaard, P., Towbin, J. A., and Chaitman, B. R. (1999) J. Am. Coll. Cardiol. 33, 5-15
20. Yan, G. X., and Antzelevitch, C. (1999) Circulation 100, 1660-1666
21. An, R. H., Wang, X. L., Kerem, B., Benhorin, J., Medina, A., Goldmit, M., and Kass, R. S. (1998) Circ. Res. 83, 141-146
22. Abriel, H., Cabo, C., Wehrens, X. H., Rivolta, I., Motoike, H. K., Memmi, M., Napolitano, C., Priori, S. G., and Kass, R. S. (2001) Circ. Res. 88, 740-745
23. An, R. H., Bangalore, R., Rosero, S. Z., and Kass, R. S. (1996) Circ. Res. 79, 103-108
24. Wei, J., Wang, D. W., Alings, M., Fish, F., Wathen, M., Roden, D. M., and George, A. L., Jr. (1999) Circulation 99, 3165-3171
25. Deschenes, I., Baroudi, G., Berthet, M., Barde, I., Chalvidan, T., Denjoy, I., Guicheney, P., and Chahine, M. (2000) Cardiovasc. Res. 46, 55-65
26. Benhorin, J., Goldmit, M., MacCluer, J., Blangero, J., Goffen, R., Leibovitch, A., Rahat, A., Wang, Q., Medina, A., Towbin, J., and Kerem, B. (1998) Hum. Mutat. 12, 72
27. Rook, M. B., Alshinawi, C. B., Groenewegen, W. A., van Gelder, I. C., van Ginneken, A. C., Jongsma, H. J., Mannens, M. M., and Wilde, A. A. (1999) Cardiovasc. Res. 44, 507-517
28. Zhang, L., Timothy, K. W., Vincent, G. M., Lehmann, M. H., Fox, J., Giuli, L. C., Shen, J., Splawski, I., Priori, S. G., Compton, S. J., Yanowitz, F., Benhorin, J., Moss, A. J., Schwartz, P. J., Robinson, J. L., Wang, Q., Zareba, W., Keating, M. T., Towbin, J. A., Napolitano, C., and Medina, A. (2000) Circulation 102, 2849-2855
29. Brugada, P. (2000) Heart 84, 1-2
30. Brugada, P., Brugada, R., and Brugada, J. (2000) Curr. Cardiol. Rep. 2, 507-514
31. Bannett, P. B., Yazawa, K., Makita, N., and George, A. L. (1995) Nature 376, 683-685
32. Wang, D. W., Makita, N., Kitabatake, A., Balser, J. R., and George, A. L. (2000) Circ. Res. 87, E37-E43
33. Veldkamp, M. W., Viswanathan, P. C., Bezzina, C., Baartscheer, A., Wilde, A. A., and Balser, J. R. (2000) Circ. Res. 86, E91-E97
34. Clayton, R. H., Bailey, A., Biktashev, V. N., and Holden, A. V. (2001) J. Theor. Biol. 208, 215-225
35. Grant, A. O. (2001) Am. J. Med. 110, 296-305
36. Schwartz, P. J., Priori, S. G., Locati, E. H., Napolitano, C., Cantu, F., Towbin, J. A., Keating, M. T., Hammoude, H., Brown, A. M., and Chen, L. S. (1995) Circulation 92, 3381-3386
37. Swan, H., Saarinen, K., Kontula, K., Toivonen, L., and Viitasalo, M. (1998) J. Am. Coll. Cardiol. 32, 486-491
38. Wehrens, X. H., Abriel, H., Cabo, C., Benhorin, J., and Kass, R. S. (2000) Circulation 102, 584-590