Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels

Cardiovascular Research

Volumn 83, Issue 3, 2009, Pages 473-480

  Teng, Siyong ^a,b   Gao, Lizhi ^b   Paajanen, Vesa ^b   Pu, Jielin ^a   Fan, Zheng ^b  

^a FUWAI HOSPITAL   (China)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

Aminoglycosides; Eukaryotic release factors; Nonsense mutation; SiRNA; Sodium channels

Indexed keywords

AMINOGLYCOSIDE; BINDING PROTEIN; COMPLEMENTARY DNA; PROTEIN ERF3A; SMALL INTERFERING RNA; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ARTICLE; BRUGADA SYNDROME; CELL STRAIN HEK293; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSFECTION; HEART ARRHYTHMIA; HUMAN; HUMAN CELL; IMMUNOCHEMISTRY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA TRANSLATION; SCN5A GENE; SUDDEN DEATH; WESTERN BLOTTING;

AMINOGLYCOSIDES; BRUGADA SYNDROME; CELL LINE; CODON, NONSENSE; CODON, TERMINATOR; DEATH, SUDDEN, CARDIAC; GENOTYPE; HUMANS; KINETICS; MEMBRANE POTENTIALS; MUSCLE PROTEINS; MYOCYTES, CARDIAC; PEPTIDE TERMINATION FACTORS; PHENOTYPE; RIBOSOMES; RNA INTERFERENCE; RNA, SMALL INTERFERING; SODIUM; SODIUM CHANNELS; TRANSFECTION;

EID: 67651102792     PISSN: 00086363     EISSN: 17553245     Source Type: Journal    
DOI: 10.1093/cvr/cvp116     Document Type: Article

References (37)

1. George AL Jr. Inherited disorders of voltage-gated sodium channels. J Clin Invest 2005;115:1990-1999.
2. Bezzina CR, Carol AR. Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection? Circ Arrhythmia Electrophysiol 2008;1:80-82.
3. Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N et al. Human gene mutation database-a biomedical information and research resource. Hum Mutat 2000;15:45-51.
4. Hirawat S, Welch EM, Elfring GL, Northcutt VJ, Paushkin S, Hwang S et al. Safety, tolerability, and pharmacokinetics of ptc124, a nonaminoglycoside nonsense mutation suppressor, following single-multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 2007;47:430-444.
5. Papadatos GA, Wallerstein PM, Head CE, Ratcliff R, Brady PA, Benndorf K et al. Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Natl Acad Sci USA 2002;99:6210-6215.
6. Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, vander Wal AC, Lam J et al. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res 2003;92: 159-168.
7. Keller DI, Barrane FZ, Gouas L, Martin J, Pilote S, Suarez V et al. A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. Can J Cardiol 2005;21:925-931.
8. Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene. J Clin Invest 2003;112:1019-1028.
9. Makita N, Sumitomo N, Watanabe I, Tsutsui H. Novel SCN5A mutation (Q55X) associated with age-dependent expression of Brugada syndrome presenting as neurally mediated syncope. Heart Rhythm 2007;4:516-519.
10. Linde L, Boelz S, Nissim-Rafinia M, Oren YS, Wilschanski M, Yaacov Y et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 2007;117:683-692.
11. Chauvin C, Salhi S, Le GC, Viranaicken W, Diop D. Involvement of human release factors ERF3a and ERF3b in translation termination and regulation of the termination complex formation. Mol Cell Biol 2005;25: 5801-5811.
12. Carnes J, Jacobson M, Leinwand L, Yarus M. Stop codon suppression via inhibition of ERF1 expression. RNA 2003;9:648-653.
13. Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 1997;3:1280-1284.
14. Howard MT, Shirts BH, Petros LM, Flanigan KM, Atkins JF. Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 2000;48:164-169.
15. Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999;104:375-381.
16. Du M, Jones JR, Lanier J, Keeling KM, Lindsey JR, Tousson A et al. Aminoglycoside suppression of a premature stop mutation in a Cftr-/-mouse carrying a human CFTR-G542X transgene. J Mol Med 2002;80:595-604.
17. Diop D, Chauvin C, Jean-Jean O. Aminoglycosides and other factors promoting stop codon readthrough in human cells. C R Biol 2007;330:71-79.
18. Turillazzi E, Rocca GL, Anzalone R, Corrao S, Neri M, Pomara C et al. Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome. Virchows Arch 2008;453:209-216.
19. Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ et al. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 2003;93:821-828.
20. Cui Y, Wang W, Fan Z. Cytoplasmic vestibule of the weak inward rectifier Kir6.2 potassium channel. J Biol Chem 2002;277:10523-10530.
21. Usuki F, Ishiura S. Expanded CTG repeats in myotonin protein kinase increase susceptibility to oxidative stress. Neuro Report 1998;9: 2291-2296.
22. + channels expressed in a mammalian cell line. J Physiol 1996;496:275-286.
23. Brumbaugh KM. The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells. Mol Cell 2004;14: 585-598.
24. Rogakou EP, Pilch DR, Orr AH, Ivanova VS, Bonner WM. DNA doublestranded breaks induce histone H2AX phosphorylation on serine 139. J Biol Chem 1998;273:5858-5868.
25. Brummelkamp TR, Bernards R, Agami R. A system for stable expression of short interfering RNAs in mammalian cells. Science 2002;296:550- 553.
26. Manuvakhova M, Keeling K, Bedwell DM. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 2000;6:1044-1055.
27. Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M et al. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 2006;15:2185-2191.
28. Janzen DM, Geballe AP. The effect of eukaryotic release factor depletion on translation termination in human cell lines. Nucleic Acids Res 2004;32: 4491-4502.
29. McCaughan KK, Brown CM, Dalphin ME, Berry MJ, Tate WP. Translational termination efficiency in mammals is influenced by the base following the stop codon. Proc Natl Acad Sci USA 1995;92:5431-5435.
30. Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006; 12:306-316.
31. Rospert S. Polypeptide chain termination and stop codon readthrough on eukaryotic ribosomes. Rev Physiol Biochem Pharmacol 2005;155:1-30.
32. Zingman LV, Park S, Olson TM, Alekseev AE, Terzic A. Aminoglycoside- induced translational read-through in disease: overcoming nonsense mutations by pharmacogenetic therapy. Clin Pharmacol Ther 2007;81:99-103.
33. Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci USA 2004;101: 15676-15681.
34. Karow M, Rogers EJ, Lovett P, Piggot P. Suppression of TGA mutations in the Bacillus subtilis spoIIR gene by prfB mutations. J Bacteriol 1998; 180:4166-4170.
35. Ishigaki Y, Li XJ, Serin G, Maquat LE. Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell 2001;106:607-617.
36. Geiger SK, Bär H, Ehlermann P, Wälde S, Rutschow D. Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. J Mol Med 2008;86: 281-289.
37. Stephenson LS, Maquat LE. Cytoplasmic mRNA for human triosephosphate isomerase is immune to nonsense-mediated decay despite forming polysomes. Biochimie 1996;78:1043-1047.