A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs

Cardiovascular Research

Volumn 62, Issue 1, 2004, Pages 53-62

  Valdivia, Carmen R ^a   Tester, David J ^b   Rok, Benjamin A ^a   Porter, Co Burn J ^c   Munger, Thomas M ^c   Jahangir, Arshad ^c   Makielski, Jonathan C ^a   Ackerman, Michael J ^b,c  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b MAYO CLINIC   (United States)

^c Mayo Clinic   (United States)

Author keywords

Arrhythmia (mechanisms); Brugada syndrome; Genetic testing; Ion channels; Na channel; NaV1.5; Official gene designation for the cardiac sodium channel gene residing on chromosome 3p21; SCN5A

Indexed keywords

ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; MEXILETINE; MUTANT PROTEIN; QUINIDINE; SODIUM CHANNEL BLOCKING AGENT; VOLTAGE GATED SODIUM CHANNEL;

ADOLESCENT; ARTICLE; BETA CHAIN; BRUGADA SYNDROME; CASE REPORT; CAUCASIAN; CELL LINE; DEFIBRILLATION; ELECTROCARDIOGRAM; GENE MUTATION; GENETIC ENGINEERING; GENETIC TRANSFECTION; GENOME ANALYSIS; HEART CONDUCTION; HEART VENTRICLE FIBRILLATION; HIS BUNDLE; HUMAN; HUMAN CELL; LOW TEMPERATURE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PURKINJE FIBER; SODIUM CURRENT; WILD TYPE;

ADOLESCENT; ANIMALS; ARRHYTHMIA; CELL LINE; HUMANS; LONG QT SYNDROME; MALE; MEXILETINE; MUTATION, MISSENSE; MYOCARDIUM; PATCH-CLAMP TECHNIQUES; PEDIGREE; QUINIDINE; SODIUM CHANNEL BLOCKERS; SODIUM CHANNELS; TRANSFECTION;

EID: 1542268995     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2004.01.022     Document Type: Article

References (19)

1. Goldin A.L., Barchi R.L., Caldwell J.H.et al. Nomenclature of voltage-gated sodium channels. Neuron. 28(2):2000;365-368.
2. Antzelevitch C., Brugada P., Brugada J.et al. Brugada syndrome: a decade of progress. Circ. Res. 91(12):2002;1114-1118.
3. Baroudi G., Acharfi S., Larouche C., Chahine M. Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada Syndrome. Circ. Res. 90(1):2002;E11-E16.
4. Valdivia C.R., Ackerman M.J., Tester D.A.et al. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc. Res. 54(3):2002;624-629.
5. 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(3):2003;187-193.
6. Takahata T., Yasui-Furukori N., Sasaki S.et al. Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects. Life Sci. 72(21):2003;2391-2399.
7. Wang Q., Li Z., Shen J., Keating M.T. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics. 34(1):1996;9-16.
8. Underhill P.A., Jin L., Lin A.A.et al. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 7(10):1997;996-1005.
9. Ackerman M.J., Siu B.L., Sturner W.Q.et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 286(18):2001;2264-2269.
10. Van Driest S.L., Ackerman M.J., Ommen S.R.et al. Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation. 106(24):2002;3085-3090.
11. + channels. Am. J. Physiol. 275(6):1998;H2016-H2024. [Heart 44].
12. Valdivia C.R., Nagatomo T., Makielski J.C. Late Na currents affected by alpha subunit isoform and beta1 subunit co-expression in HEK293 cells. J. Mol. Cell. Cardiol. 34(8):2002;1029-1039.
13. Antzelevitch C. The Brugada syndrome: ionic basis and arrhythmia mechanisms. J. Cardiovasc. Electrophysiol. 12(2):2001;268-272.
14. Zhou Z., Gong Q., January C.T. Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects. J. Biol. Chem. 274(44):1999;31123- 31126.
15. Priori S.G., Napolitano C., Gasparini M.et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 105(11):2002;1342-1347.
16. Wang D.W., Makita N., Kitabatake A., Balser J.R., George A.L. Jr. Enhanced Na(+) channel intermediate inactivation in Brugada syndrome. Circ. Res. 87(8):2000;E37-E43.
17. Brugada J., Brugada R., Antzelevitch C., Towbin J., Nademanee K., Brugada P. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3. Circulation. 105(1):2002;73-78.
18. Ujhelyi M.R., Sims J.J., Miller A.W. High-dose lidocaine does not affect defibrillation efficacy: implications for defibrillation mechanisms. Am. J. Physiol. 274(4 Pt. 2):1998;H1113-H1120.
19. Grant A.O. Mechanisms of action of antiarrhythmic drugs: from ion channel blockage to arrhythmia termination. Pacing Clin. Electrophysiol. 20(2 Pt. 2):1997;432-444.