Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine

American Journal of Physiology - Heart and Circulatory Physiology

Volumn 291, Issue 4, 2006, Pages

  Tan, Bi Hua ^a   Valdivia, Carmen R ^a   Song, Chunhua ^a   Makielski, Jonathan C ^a  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Mexiletine rescue; Sodium channels

Indexed keywords

MEXILETINE; PROTEIN SCN5A; PROTEIN SUBUNIT; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; BRUGADA SYNDROME; CELL SURFACE; CHANNEL GATING; CONTROLLED STUDY; DNA POLYMORPHISM; G1406R GENE; GENE; GENE DELETION; GENE FUNCTION; GENE INACTIVATION; GENE INSERTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; VOLTAGE CLAMP;

ALTERNATIVE SPLICING; ANTI-ARRHYTHMIA AGENTS; ARRHYTHMIA; CELL LINE; GENE EXPRESSION REGULATION; HUMANS; IMMUNOHISTOCHEMISTRY; ION CHANNELS; MEXILETINE; MICROSCOPY, CONFOCAL; MUSCLE PROTEINS; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; POLYMORPHISM, GENETIC; SODIUM CHANNELS; SYNDROME; TIME FACTORS; TRANSFECTION;

EID: 33749317272     PISSN: 03636135     EISSN: 15221539     Source Type: Journal    
DOI: 10.1152/ajpheart.00101.2006     Document Type: Article

References (18)

1. Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, Judson R, and Curran ME. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 1: 600-607, 2004.
2. Baroudi G, Acharfi S, Larouche C, and Chahine M. Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ Res 90: E11-E16, 2002.
3. Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, and Chahine M. Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ Res 88: E78-E83, 2001.
4. CAST Investigators. Preliminary report: effect of encainide and flecainide on mortality in a randomized trial of arrhythmia suppression after myocardial infarction. N Engl J Med 321: 406-412, 1989.
5. Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko DV, Nesterenko VV, Brugada J, Brugada R, and Antzelevitch C. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 85: 803-809, 1999.
6. Gellens ME, George AL Jr, Chen LQ, Chahine M, Horn R, Barchi RL, and Kallen RG. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci USA 89: 554-558, 1992.
7. + channel inactivation gating. Circ Res 75: 114-122, 1994.
8. + channels. J Mol Cell Cardiol 36: 185-193, 2004.
9. Kass RS. The channelopathies: novel insights into molecular and genetic mechanisms of human disease. J Clin Invest 115: 1986-1989, 2005.
10. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, Moisan JP, Boisseau P, Schott JJ, Escande D, and Le Marec H. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 104: 3081-3086, 2001.
11. Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu JL, Tester DJ, and Ackerman MJ. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 93: 821-828, 2003.
12. 3: An additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics. Proc Natl Acad Sci USA 97: 2308-2313, 2000.
13. + channels. Am J Physiol Heart Circ Physiol 275: H2016-H2024, 1998.
14. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, and Kass RS. Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem 276: 30623-30630, 2001.
15. Tan BH, Valdivia CR, Rok BA, Ye B, Ruwaldt KM, Tester DJ, Ackerman MJ, and Makielski JC. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2: 741-747, 2005.
16. Valdivia CR, Ackerman MJ, Tester DA, Wada T, McCormack J, Ye B, and Makielski JC. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res 54: 624-629, 2002.
17. Valdivia CR, Tester DJ, Rok BA, Porter CB, Munger TM, Jahangir A, Makielski JC, and Ackerman MJ. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc Res 62: 53-62, 2004.
18. Ye B, Valdivia CR, Ackerman MJ, and Makielski JC. A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. Physiol Genomics 12: 187-193, 2003.