The β1-Subunit of Nav1.5 Cardiac Sodium Channel Is Required for a Dominant Negative Effect through α-α Interaction

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Mercier, Aurélie ^a   Clément, Romain ^a   Harnois, Thomas ^a,b   Bourmeyster, Nicolas ^a,b   Faivre, Jean François ^a   Findlay, Ian ^a,c   Chahine, Mohamed ^d   Bois, Patrick ^a   Chatelier, Aurélien ^a  

^a UNIVERSITÉ DE POITIERS   (France)

^b POITIERS UNIVERSITY HOSPITAL   (France)

^c UNIVERSITÉ DE TOURS   (France)

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

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.5;

ALPHA CHAIN; ARTICLE; BETA CHAIN; CELL STRAIN HEK293; CELL SURFACE; CELLULAR DISTRIBUTION; CONFOCAL MICROSCOPY; CONTROLLED STUDY; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE TEST; IMMUNOPRECIPITATION; MUTANT; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; PROTEIN LOCALIZATION; SODIUM CURRENT; WILD TYPE;

BRUGADA SYNDROME; DNA, COMPLEMENTARY; ELECTROPHYSIOLOGY; GENES, DOMINANT; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HETEROZYGOTE; HUMANS; IMMUNOBLOTTING; IMMUNOPRECIPITATION; MICROSCOPY, FLUORESCENCE; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PROTEIN BINDING; SODIUM;

EID: 84868329934     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0048690     Document Type: Article

References (22)

1. Brugada J, Brugada R, Brugada P, (1998) Right bundle-branch block and ST-segment elevation in leads V1 through V3: a marker for sudden death in patients without demonstrable structural heart disease. Circulation 97: 457-460.
2. Brugada P, Brugada J, (1992) Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. J Am Coll Cardiol 20: 1391-1396. Notes: Comment in: J Am Coll Cardiol 1993 Aug 22(2): 633.
3. Schulze-Bahr E, Eckardt L, Breithardt G, Seidl K, Wichter T, et al. (2003) Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat 21: 651-652.
4. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, et al. (1998) Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392: 293-296.
5. Patino GA, Isom LL, (2010) Electrophysiology and beyond: multiple roles of Na+ channel beta subunits in development and disease. Neurosci Lett 486: 53-59.
6. Chahine M, O'Leary ME, (2011) Regulatory Role of Voltage-Gated Na Channel beta Subunits in Sensory Neurons. Front Pharmacol 2 70: 70.
7. Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, et al. (2001) Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ Res 88: E78-E83.
8. Valdivia CR, Tester DJ, Rok BA, Porter CBJ, Munger TM, et al. (2004) A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc Res 62: 53-62.
9. Baroudi G, Napolitano C, Priori SG, Del Bufalo A, Chahine M, (2004) Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. Can J Cardiol 20: 425-430.
10. Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, et al. (2006) Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation 114: 2026-2033.
11. Watanabe H, Koopmann TT, Le SS, Yang T, Ingram CR, et al. (2008) Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 118: 2260-2268.
12. Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, et al. (2006) SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 114: 368-376.
13. Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, et al. (2005) Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res 67: 510-519.
14. Mezghrani A, Monteil A, Watschinger K, Sinnegger-Brauns MJ, Barrere C, et al. (2008) A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels. J Neurosci 28: 4501-4511.
15. Page KM, Heblich F, Margas W, Pratt WS, Nieto-Rostro M, et al. (2010) N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2. J Biol Chem 285: 835-844.
16. Margolskee RF, McHendry-Rinde B, Horn R, (1993) Panning transfected cells for electrophysiological studies. Biotechniques 15: 906-911.
17. Deschênes I, Baroudi G, Berthet M, Barde I, Chalvidan T, et al. (2000) Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res 46: 55-65.
18. Bechi G, Scalmani P, Schiavon E, Rusconi R, Franceschetti S, et al. (2012) Pure haploinsufficiency for Dravet syndrome Na(V) 1.1 (SCN1A) sodium channel truncating mutations. Epilepsia 53: 87-100.
19. Rock KL, Gramm C, Rothstein L, Clark K, Stein R, et al. (1994) Inhibitors of the proteasome block the degradation of most cell proteins and the generation of peptides presented on MHC class I molecules. Cell 78: 761-771.
20. Catterall WA, (1986) Molecular properties of voltage-sensitive sodium channels. Annu Rev Biochem 55: 953-985.
21. Isom LL, (2002) β subunits: players in neuronal hyperexcitability? Novartis Found Symp 241: 124-138.
22. Malhotra JD, Kazen-Gillespie K, Hortsch M, Isom LL, (2000) Sodium channel β subunits mediate homophilic cell adhesion and recruit ankyrin to points of cell-cell contact. J Biol Chem 275: 11383-11388.