Mexiletine differentially restores the trafficking defects caused by two Brugada syndrome mutations

Frontiers in Pharmacology

Volumn 3 APR, Issue , 2012, Pages

  Moreau, Adrien ^a   Keller, Dagmar I ^b   Huang, Hai ^a   Fressart, Véronique ^c   Schmied, Christian ^b   Timour, Quadiri ^d   Chahine, Mohamed ^a,e  

^a CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE QUÉBEC   (Canada)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d UNIVERSITÉ LYON 1   (France)

^e UNIVERSITÉ LAVAL   (Canada)

Author keywords

Brugada syndrome; Cardiac arrhythmias; Mexiletine; Nav1.5; Sodium channels; Ventricular fibrillation

Indexed keywords

ANTIPYRETIC AGENT; CURCUMIN; MEXILETINE; SODIUM CHANNEL NAV1.5; THAPSIGARGIN;

ADULT; ANTIBODY LABELING; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CELLULAR DISTRIBUTION; CHANNEL GATING; CONTROLLED STUDY; DENSITY; DISEASE CLASSIFICATION; ENDOPLASMIC RETICULUM; FAINTNESS; FAMILY HISTORY; FEVER; GENE MUTATION; GENETIC TRANSFECTION; HEART VENTRICLE ARRHYTHMIA; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; MALE; PATCH CLAMP; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN TARGETING; SCN5A GENE;

EID: 84866001450     PISSN: None     EISSN: 16639812     Source Type: Journal    
DOI: 10.3389/fphar.2012.00062     Document Type: Article

References (23)

1. Amin, A. S., Asghari-Roodsari, A., and Tan, H. L. (2010). Cardiac sodium channelopathies. Pflugers Arch. 460, 223-237.
2. Antzelevitch, C. (2006). Brugada syndrome. Pacing. Clin. Electrophysiol. 29, 1130-1159.
3. Baroudi, G., Acharfi, S., Larouche, C., and Chahine, M. (2002). Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ. Res. 90, E11-E16.
4. Baroudi, G., Pouliot, V., Denjoy, I., Guicheney, P., Shrier, A., and Chahine, M. (2001). Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ. Res. 88, E78-E83.
5. Bhar-Amato,J.,Nunn,L.,and Lambiase, P. (2010). A review of the mechanisms of ventricular arrhythmia in Brugada syndrome. Indian Pacing Electrophysiol. J. 10, 410-425.
6. Deschenes, I., Baroudi, G., Berthet, M., Barde, I., Chalvidan, T., Denjoy, I., Guicheney, P., and Chahine, M. (2000). Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc. Res. 46, 55-65.
7. Egan, M. E., Glockner-Pagel, J., Ambrose, C., Cahill, P. A., Pappoe, L., Balamuth, N., Cho, E., Canny, S., Wagner, C. A., Geibel, J., and Caplan,M. J. (2002). Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells. Nat. Med. 8, 485-492.
8. Egan, M. E., Pearson, M., Weiner, S. A., Rajendran, V., Rubin, D., GlocknerPagel, J., Canny, S., Du, K., Lukacs, G. L., and Caplan, M. J. (2004). Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 304, 600-602.
9. Huang, H., Priori, S. G., Napolitano, C., O'Leary, M. E., and Chahine, M. (2011). Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels. Am. J. Physiol. Heart Circ. Physiol. 300, H288-H299.
10. Keller, D. I., Huang, H., Zhao, J., Frank, R., Suarez, V., Delacretaz, E., Brink, M., Osswald, S., Schwick, N., and Chahine, M. (2006). A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. Cardiovasc. Res. 70, 521-529.
11. Keller, D. I., Rougier, J. S., Kucera, J. P., Benammar, N., Fressart, V., Guicheney, P., Madle, A., Fromer, M., Schlapfer, J., and Abriel, H. (2005). Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc. Res. 67, 510-519.
12. London, B., Michalec, M., Mehdi, H., Zhu, X., Kerchner, L., Sanyal, S., Viswanathan, P. C., Pfahnl, A. E., Shang, L. L., Madhusudanan, M., Baty, C. J., Lagana, S., Aleong, R., Gutmann, R., Ackerman, M. J., McNamara, D. M., Weiss, R., and Dudley, S. C. Jr. (2007). Mutation in glycerol-3phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 116, 2260-2268.
13. Moya, A., Sutton, R., Ammirati, F., Blanc, J. J., Brignole, M., Dahm, J. B., Deharo, J. C., Gajek, J., Gjesdal, K., Krahn, A., Massin, M., Pepi, M., Pezawas, T., Ruiz Granell, R., Sarasin, F., Ungar, A., Van Dijk, J. G., Walma, E. P., and Wieling, W. (2009). Guidelines for the diagnosis and management of syncope (version 2009). Eur. Heart J. 30, 2631-2671.
14. Tulapurkar, M. E., Asiegbu, B. E., Singh, I. S., and Hasday, J. D. (2009). Hyperthermia in the febrile range induces HSP72 expression proportional to exposure temperature but not to HSF-1 DNA-binding activity in human lung epithelial A549 cells. Cell Stress Chaperones 14, 499-508.
15. Valdivia, C. R., Tester, D. J., Rok, B. A., Porter,C. B.,Munger,T. M.,Jahangir, A., Makielski, J. C., and Ackerman, M. J. (2004). A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc. Res. 62, 53-62.
16. Wang, Q., Li, Z., Shen, J., and Keating, M. T. (1996). Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34, 9-16.
17. Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J. J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C., Pfeufer, A., Kaab, S., Wichmann, H. E., Hasdemir, C., Aizawa, Y., Wilde, A. A., Roden, D. M., and Bezzina, C. R. (2008). Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118, 2260-2268.
18. Weiser, T., Qu, Y., Catterall, W. A., and Scheuer, T. (1999). Differential interaction of R-mexiletine with the local anesthetic receptor site on brain and heart sodium channel alpha-subunits. Mol. Pharmacol. 56, 1238-1244.
19. Wilde,A. A.,Antzelevitch, C., Borggrefe, M., Brugada, J., Brugada, R., Brugada, P., Corrado, D., Hauer, R. N., Kass, R. S., Nademanee, K., Priori, S. G., and Towbin, J. A. (2002). Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation 106, 2514-2519.
20. Yokokawa, M., Okamura, H., Noda, T., Satomi, K., Suyama, K., Kurita, T., Aihara, N., Kamakura, S., and Shimizu, W. (2010). Neurally mediated syncope as a cause of syncope in patients with Brugada electrocardiogram. J. Cardiovasc. Electrophysiol. 21, 186-192.
21. Zhou, Z., Gong, Q., and January, C. T. (1999). Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J. Biol. Chem. 274, 31123-31126.
22. Zimmer, T., Biskup, C., Dugarmaa, S., Vogel, F., Steinbis, M., Bohle, T., Wu, Y. S., Dumaine, R., and Benndorf, K. (2002). Functional expression of GFP-linked human heart sodium channel (hH1) and subcellular localization of the a subunit in HEK293 cells and dog cardiac myocytes. J. Membr. Biol. 186, 1-12.
23. Zimmer, T., and Surber, R. (2008). SCN5A channelopathies - an update on mutations and mechanisms. Prog. Biophys. Mol. Biol. 98,120-136.