The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680h to increase late Na current

Physiological Genomics

Volumn 43, Issue 9, 2011, Pages 461-466

  Cheng, Jianding ^a   Tester, David J ^b   Tan, Bi Hua ^a   Valdivia, Carmen R ^a   Kroboth, Stacie ^a   Ye, Bin ^a   January, Craig T ^a   Ackerman, Michael J ^b   Makielski, Jonathan C ^a  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b MAYO CLINIC   (United States)

Author keywords

Genetics; Ion channels; Sodium current; Sudden death

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; SODIUM; SODIUM CHANNEL NAV1.5; VOLTAGE GATED SODIUM CHANNEL;

ACIDOSIS; ADULT; AFRICAN AMERICAN; ARTICLE; CASE REPORT; CELL PH; CELL STRAIN HEK293; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; ELECTROPHYSIOLOGY; GENE; GENE DELETION; GENE EXPRESSION; GENE FREQUENCY; GENE INTERACTION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PLASMID; PRIORITY JOURNAL; RISK FACTOR; SCN5A GENE; SODIUM CURRENT; SPLICING DEFECT; SUDDEN DEATH; WHOLE CELL;

AFRICAN AMERICANS; ARRHYTHMIAS, CARDIAC; BASE SEQUENCE; DEATH, SUDDEN; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; HEK293 CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; SODIUM; SODIUM CHANNELS;

EID: 79956316432     PISSN: 10948341     EISSN: 15312267     Source Type: Journal    
DOI: 10.1152/physiolgenomics.00198.2010     Document Type: Article

References (24)

1. Ackerman M.J., Splawski I., Makielski J.C., Tester D.J., Will M.L., Timothy K.W., Keating M.T., Jones G., Chadha M., Burrow C.R., Stephens J.C., Xu C., Judson R., Curran M.E. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implication for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 1: 600-607, 2004.
2. Ackerman M.J., Tester D.J., Jones G., Will M.K., Burrow C.R., Curran M. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc 78: 1479-1487, 2003.
3. Bennett P.B., Yazawa K., Makita N., George A.L. Molecular mechanism for an inherited cardiac arrhythmia. Nature 376: 683-685, 1995.
4. Benson D.W. Compound heterozygous SCN5A mutations: does the sum of the parts equal the whole? Heart Rhythm 6: 1176-1177, 2009.
5. Burke A, Creighton W, Mont E, Li L, Hogan S, Kutys R, Fowler D, Virmani R. Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks. Circulation 112: 798-802, 2005.
6. Chen S, Chung M.K, Martin D, Rozich R, Tchou P.J, Wang Q. SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. J Med Genet 39: 913-915, 2002.
7. Cheng J, Van Norstrand D.W, Medeiros-Domingo A, Valdivia C, Tan B.H, Ye B, Kroboth S, Vatta M, Tester D.J, January C.T, Makielski J.C, Ackerman M.J. Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circ Arrhythm Electrophysiol 2: 667-676, 2009.
8. Chu P.J, Larsen J.K, Chen C.C, Best P.M. Distribution and relative expression levels of calcium channel beta subunits within the chambers of the rat heart. J Mol Cell Cardiol 36: 423-434, 2004.
9. Gavillet B, Rougier J.S, Domenighetti A.A, Behar R, Boixel C, Ruchat P, Lehr H.A, Pedrazzini T, Abriel H. Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin. Circ Res 99: 407-414, 2006.
10. 2+ signaling and susceptibility to apoptosis. Circ Res 100: 874-883, 2007.
11. Liao P, Yu D, Li G, Yong T.F, Soon J.L, Chua Y.L, Soong T.W. A smooth muscle Cav1.2 calcium channel splice variant underlies hyperpo-larized window current and enhanced state-dependent inhibition by nifedipine. J Biol Chem 282: 35133-35142, 2007.
12. Makielski J.C, Ye B, Valdivia C.R, Pagel M.D, Pu J, Tester D.J, Ackerman M.J. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 93: 821-828, 2003.
13. Medeiros-Domingo A, Tan B.H, Iturralde-Torres P, Tester D.J, Tusié-Luna T, Makielski J.C, Ackerman M.J. Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. Heart Rhythm 6: 1170-1175, 2009.
14. Nagatomo T, January C.T, Ye B, Abe H, Nakashima Y, Makielski J.C. Rate-dependent Q.T shortening mechanism for the LQT3 DeltaKPQ mutant. Cardiovasc Res 54: 624-629, 2002.
15. Niu D.M, Hwang B, Hwang H.W, Wang N.H, Wu J.Y, Lee P.C, Chien J.C, Shieh R.C, Chen Y.T. A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. J Med Genet 43: 817-821, 2006.
16. Plant L.D, Bowers P.N, Liu Q, Morgan T, Zhang T, State M.W, Chen W, Kittles R.A, Goldstein S.N. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest 116: 430-435, 2006.
17. Poelzing S, Forleo C, Samodell M, Dudash L, Sorrentino S, Anaclerio M, Troccoli R, Iacoviello M, Romito R, Guida P, Chahine M, Pitzalis M, Deschênes I. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 114: 368-376, 2006.
18. Splawski I, Timothy K.W, Tateyama M, Clancy C.E, Malhotra A, Beggs A.H, Sagnella G.A, Kass R.S, Keating M.T. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297: 1333-1336, 2002.
19. Tan B.H, Valdivia C.R, Rok B.A, Ye B, Ruwaldt K.M, Tester D.J, Ackerman M.J, Makielski J.C. Common human SCN5A polymorphism have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2: 741-747, 2005.
20. Tan B.H, Valdivia C.R, Song C, Makielski J.C. 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-H1828, 2006.
21. Van Norstrand D.W, Tester D.J, Ackerman M.J. Over-representation of the pro-arrhythmic, sudden death predisposing sodium channel polymorphism, S1103Y, in a population-based cohort of African American sudden infant death syndrome. Heart Rhythm 5: 712-715, 2008.
22. Wang D.W, Desai R.R, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Rognum T, Schwartz P.J, George A.L Jr. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation 115: 368-376, 2007.
23. Wang X, Xu R, Abernathey G, Taylor J, Alzghoul M.B, Hannon K, Hockerman G.H, Pond A.L. Kv11.1 channel subunit composition includes Mink and varies developmentally in mouse cardiac muscle. Dev Dyn 237: 2430-2437, 2008.
24. Ye B, Valdivia C.R, Ackerman M.J, Makielski J.C. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 12: 187-193, 2003.