A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

PLoS ONE

Volumn 8, Issue 1, 2013, Pages

  Tarradas, Anna ^a,b   Selga, Elisabet ^a,b   Beltran Alvarez, Pedro ^a,b   Pérez Serra, Alexandra ^a,b   Riuró, Helena ^a,b   Picó, Ferran ^a,b   Iglesias, Anna ^a,b   Campuzano, Oscar ^a,b   Castro Urda, Víctor ^c   Fernández Lozano, Ignacio ^c   Pérez, Guillermo J ^a,b   Scornik, Fabiana S ^a,b   Brugada, Ramon ^a,b  

^a GIRONA BIOMEDICAL RESEARCH INSTITUTE IDIBGI   (Spain)

^b UNIVERSITY OF GIRONA   (Spain)

^c HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; SODIUM CHANNEL NAV1.5; THREONINE;

ARTICLE; BIOTINYLATION; BRUGADA SYNDROME; CELL DENSITY; EMBRYO; GENE SEQUENCE; HUMAN; HUMAN CELL; KIDNEY CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SCN5A GENE; SODIUM CURRENT; STEADY STATE; WILD TYPE;

ADULT; AMINO ACID SEQUENCE; BRUGADA SYNDROME; CHILD; FEMALE; HEK293 CELLS; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE;

EID: 84872016586     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0053220     Document Type: Article

References (36)

1. Amin AS, Asghari-Roodsari A, Tan HL, (2010) Cardiac sodium channelopathies. Pflugers Arch 460: 223-237.
2. 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.
3. Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, et al. (2005) Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 111: 659-670.
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. Campuzano O, Sarquella-Brugada G, Brugada R, Brugada P, Brugada J, (2009) Cardiovascular translational medicine (IV): The genetic basis of malignant arrhythmias and cardiomyopathies. Rev Esp Cardiol 62: 422-436.
6. Zimmer T, Surber R, (2008) SCN5A channelopathies-an update on mutations and mechanisms. Prog Biophys Mol Biol 98: 120-136.
7. Antzelevitch C, Nof E, (2008) Brugada syndrome: recent advances and controversies. Curr Cardiol Rep 10: 376-383.
8. Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, et al. (2010) An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 7: 33-46.
9. Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, et al. (1992) Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A 89: 554-558.
10. Wang Q, Li Z, Shen J, Keating MT, (1996) Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34: 9-16.
11. Payandeh J, Scheuer T, Zheng N, Catterall WA, (2011) The crystal structure of a voltage-gated sodium channel. Nature 475: 353-358.
12. USC Genome Bioinformatics website. Available: www.genome.ucsc.edu. Acessed 2012 June.
13. NCBI-Online Mendelian Inheritance in Man website. Available: www.ncbi.nlm.nih.gov/omim. Acessed 2012 June.
14. Makita N, Behr E, Shimizu W, Horie M, Sunami A, et al. (2008) The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 118: 2219-2229.
15. Tan BH, Valdivia CR, Song C, Makielski JC, (2006) Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine. Am J Physiol Heart Circ Physiol 291: H1822-1828.
16. Jung C, Gene GG, Tomas M, Plata C, Selent J, et al. (2011) A gain-of-function SNP in TRPC4 cation channel protects against myocardial infarction. Cardiovasc Res 91: 465-471.
17. Hamill OP, Marty A, Neher E, Sakmann B, Sigworth FJ, (1981) Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch 391: 85-100.
18. ESyPred3D Web Server 1.0 website. Available: http://www.fundp.ac.be/sciences/biologie/urbm/bioinfo/esypred/. Acessed 2012 Aug.
19. UCSF-Modeller website. Available: http://salilab.org/modeller/. Acessed 2012 July.
20. CPHmodels 3.2 Server website. Available: http://www.cbs.dtu.dk/services/CPHmodels/. Acessed 2012 July.
21. Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, et al. (2009) The Human Gene Mutation Database: 2008 update. Genome Med 1: 13.
22. EMBL-EBI-Ensembl website. Available: http://www.ensembl.org. Acessed 2012 July.
23. NCBI-International HapMap Project website. Available: http://hapmap.ncbi.nlm.nih.gov/. Acessed 2012 July.
24. EMBL-EBI-1000 Genomes website. Available: http://browser.1000genomes.org. Acessed 2012 July.
25. NHLBI Exome Sequencing Project (ESP) Exome Variant Server website. Available: http://evs.gs.washington.edu/EVS/. Acessed 2012 July.
26. Antzelevitch C, Brugada P, Brugada J, Brugada R, Shimizu W, et al. (2002) Brugada syndrome: a decade of progress. Circ Res 91: 1114-1118.
27. Probst V, Wilde AA, Barc J, Sacher F, Babuty D, et al. (2009) SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2: 552-557.
28. Wilde AA, Brugada R, (2011) Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res 108: 884-897.
29. Lizotte E, Junttila MJ, Dube MP, Hong K, Benito B, et al. (2009) Genetic modulation of brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 20: 1137-1141.
30. Marangoni S, Di Resta C, Rocchetti M, Barile L, Rizzetto R, et al. (2011) A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization. Cardiovasc Res 91: 606-616.
31. Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, et al. (2009) Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm 6: 341-348.
32. Hilber K, Sandtner W, Kudlacek O, Glaaser IW, Weisz E, et al. (2001) The selectivity filter of the voltage-gated sodium channel is involved in channel activation. J Biol Chem 276: 27831-27839.
33. Itoh H, Shimizu M, Mabuchi H, Imoto K, (2005) Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A. J Cardiovasc Electrophysiol 16: 378-383.
34. 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.
35. Shirai N, Makita N, Sasaki K, Yokoi H, Sakuma I, et al. (2002) A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease. Cardiovasc Res 53: 348-354.
36. Zhang X, Ren W, DeCaen P, Yan C, Tao X, et al. (2012) Crystal structure of an orthologue of the NaChBac voltage-gated sodium channel. Nature 486: 130-134.