Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Nav1.5 α-subunits

Cardiovascular Research

Volumn 96, Issue 1, 2012, Pages 53-63

  Clatot, Jérôme ^a,b   Ziyadeh Isleem, Azza ^a,b   Maugenre, Svetlana ^a,b   Denjoy, Isabelle ^a,b,c   Liu, Haiyan ^d   Dilanian, Gilles ^a,b   Hatem, Stéphane N ^a,b   Deschênes, Isabelle ^d   Coulombe, Alain ^a,b   Guicheney, Pascale ^a,b   Neyroud, Nathalie ^a,b  

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c BICHAT HOSPITAL   (France)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Arrhythmia; Brugada syndrome; Nav1.5; SCN5A; Sodium

Indexed keywords

PROTEASOME; SODIUM CHANNEL NAV1.5;

ADULT; ALPHA CHAIN; AMINO TERMINAL SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRUGADA SYNDROME; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HEART MUSCLE CELL; HUMAN; MALE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PRIORITY JOURNAL; RAT; SODIUM CURRENT; UBIQUITINATION;

ADULT; AMINO ACID SEQUENCE; ANIMALS; ANIMALS, NEWBORN; BRUGADA SYNDROME; GENETIC COMPLEMENTATION TEST; HEK293 CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOCYTES, CARDIAC; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; RATS;

EID: 84866651094     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvs211     Document Type: Article

References (25)

1. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D et al. Brugada syndrome: report of the second consensus conference: endorsed by the heart rhythm society and the european heart rhythm association. Circulation 2005; 111:659-670.
2. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010;7: 33-46.
3. Wilde AA, Brugada R. Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res 2011;108:884-897.
4. Abriel H. Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology. J Mol Cell Cardiol 2010;48:2-11.
5. Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, Guicheney P et al. Brugada syndrome and fever: Genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res 2005;67:510-519.
6. Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, Anaclerio M et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 2006;114:368-376.
7. Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, Deschenes I. A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations. Heart Rhythm 2011;8:455-462.
8. Holst AG, Liang B, Jespersen T, Bundgaard H, Haunso S, Svendsen JH et al. Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. Cardiology 2010;115:311-316.
9. Lin MT, Wu MH, Chang CC, Chiu SN, Theriault O, Huang H et al. In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant. Heart Rhythm 2008;5:1567-1574.
10. Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I et al. Mog1: a new susceptibility gene for Brugada syndrome. Circ Cardiovasc Genet 2011;4:261-268.
11. Deschenes I, Armoundas AA, Jones SP, Tomaselli GF. Post-transcriptional gene silencing of KChIP2 and Navbeta1 in neonatal rat cardiac myocytes reveals a functional association between Na and ito currents. J Mol Cell Cardiol 2008;45:336-346.
12. Ulloa-Aguirre A, Janovick JA, Brothers SP, Conn PM. Pharmacologic rescue of conformationally-defective proteins: Implications for the treatment of human disease. Traffic 2004;5:821-837.
13. Valdivia CR, Tester DJ, Rok BA, Porter CB, Munger TM, Jahangir A et al. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc Res 2004;62:53-62.
14. Gui J, Wang T, Jones RP, Trump D, Zimmer T, Lei M. Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PloS One 2010;5:e10985.
15. Zhang Y, Wang T, Ma A, Zhou X, Gui J, Wan H et al. Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. Acta Physiol (Oxf) 2008;194:311-323.
16. Brodsky JL, Scott CM. Tipping the delicate balance: defining how proteasome maturation affects the degradation of a substrate for autophagy and endoplasmic reticulum associated degradation (ERAD). Autophagy 2007;3:623-625.
17. Sharkey LM, Cheng X, Drews V, Buchner DA, Jones JM, Justice MJ et al. The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking. J Neurosci 2009;29:2733-2741.
18. Chouabe C, Neyroud N, Guicheney P, Lazdunski M, Romey G, Barhanin J. Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. Embo J 1997;16:5472-5479.
19. Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001;358:801-807.
20. Mezghrani A, Monteil A, Watschinger K, Sinnegger-Brauns MJ, Barrere C, Bourinet E et al. A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels. J Neurosci 2008;28:4501-4511.
21. Cormet-Boyaka E, Jablonsky M, Naren AP, Jackson PL, Muccio DD, Kirk KL. Rescuing cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by transcomplementation. Proc Natl Acad Sci USA 2004;101:8221-8226.
22. Owsianik G, Cao L, Nilius B. Rescue of functional DeltaF508-CFTR channels by co-expression with truncated CFTR constructs in COS-1 cells. FEBS Lett 2003;554: 173-178.
23. Villmann C, Oertel J, Ma-Hogemeier ZL, Hollmann M, Sprengel R, Becker K et al. Functional complementation of Glra1(spd-ot), a glycine receptor subunit mutant, by independently expressed C-terminal domains. J Neurosci 2009;29:2440-2452.
24. Lee A, Goldin AL. Role of the amino and carboxy termini in isoform-specific sodium channel variation. J Physiol 2008;586:3917-3926.
25. Undrovinas AI, Fleidervish IA, Makielski JC. Inward sodium current at resting potentials in single cardiac myocytes induced by the ischemic metabolite lysophosphatidylcholine. Circ Res 1992;71:1231-1241.