Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome

International Journal of Molecular Medicine

Volumn 33, Issue 3, 2014, Pages 729-735

  Yu, Haiyun ^a   Liu, Xiaoyan ^a   Huang, Jian ^a   Zhang, Yinhui ^a   Hu, Roumu ^a   Pu, Jielin ^a  

^a PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Aminoglycosides; Ikr; Inherited arrhythmia; Nonsense mutation; Sudden cardiac death

Indexed keywords

AMINOGLYCOSIDES; CODON, NONSENSE; ETHER-A-GO-GO POTASSIUM CHANNELS; GENE EXPRESSION REGULATION; HEK293 CELLS; HUMANS; LONG QT SYNDROME; OXADIAZOLES; RNA, MESSENGER;

EID: 84893859481     PISSN: 11073756     EISSN: 1791244X     Source Type: Journal    
DOI: 10.3892/ijmm.2013.1601     Document Type: Article

References (34)

1. Splawski I, Shen J, Timothy KW, et al: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102: 1178-1185, 2000.
2. Anderson CL, Delisle BP, Anson BD, et al: Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation 113: 365-373, 2006.
3. Lee HL and Dougherty JP: Pharmaceutical therapies to recode nonsense mutations in inherited diseases. Pharmacol Ther 136: 227-266, 2012.
4. Zilberberg A, Lahav L and Rosin-Arbesfeld R: Restoration of APC gene function in colorectal cancer cells by aminoglycoside-and macrolide-induced read-through of premature termination codons. Gut 59: 496-507, 2010.
5. Malik V, Rodino-Klapac LR, Viollet L, et al: Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 67: 771-780, 2010.
6. Howard M, Frizzell RA and Bedwell DM: Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2: 467-469, 1996.
7. Yao Y, Teng S, Li N, Zhang Y, Boyden PA and Pu J: Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations. Heart Rhythm 6: 553-560, 2009.
8. Wilschanski M, Miller LL, Shoseyov D, et al: Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J 38: 59-69, 2011.
9. Goldmann T, Overlack N, Wolfrum U and Nagel-Wolfrum K: PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. Hum Gene Ther 22: 537-547, 2011.
10. Tan L, Narayan SB, Chen J, Meyers GD and Bennett MJ: PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation. J Inherit Metab Dis 34: 443-447, 2011.
11. Welch EM, Barton ER, Zhuo J, et al: PTC124 targets genetic disorders caused by nonsense mutations. Nature 447: 87-91, 2007.
12. Crotti L, Celano G, Dagradi F and Schwartz PJ: Congenital long QT syndrome. Orphanet J Rare Dis 3: 18, 2008.
13. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED and Keating MT: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 80: 795-803, 1995.
14. Alders M and Mannens M: Romano-Ward Syndrome. Pagon RA, Adam MP, Bird TD, et al (eds.). GeneReviews™ (internet). University of Washington, Seattle, WA, 2003. http://www.ncbi.nlm.nih.gov/books/NBK1129/. Last update: May 31, 2012.
15. Schweingruber C, Rufener SC, Zünd D, Yamashita A and Mühlemann O: Nonsense-mediated mRNA decay-mechanisms of substrate mRNA recognition and degradation in mammalian cells. Biochim Biophys Acta 1829: 612-623, 2013.
16. Akhavan A, Atanasiu R, Noguchi T, Han W, Holder N and Shrier A: Identification of the cyclic-nucleotide-binding domain as a conserved determinant of ion-channel cell-surface localization. J Cell Sci 118: 2803-2812, 2005.
17. Akhavan A, Atanasiu R and Shrier A: Identification of a COOH-terminal segment involved in maturation and stability of human ether-a-go-go-related gene potassium channels. J Biol Chem 278: 40105-40112, 2003.
18. Moazed D and Noller HF: Interaction of antibiotics with functional sites in 16S ribosomal RNA. Nature 327: 389-394, 1987.
19. Kondo J, Urzhumtsev A and Westhof E: Two conformational states in the crystal structure of the Homo sapiens cytoplasmic ribosomal decoding A site. Nucleic Acids Res 34: 676-685, 2006.
20. Kondo J, Francois B, Urzhumtsev A and Westhof E: Crystal structure of the Homo sapiens cytoplasmic ribosomal decoding site complexed with apramycin. Angew Chem Int Ed Engl 45: 3310-3314, 2006.
21. Hermann T, Tereshko V, Skripkin E and Patel DJ: Apramycin recognition by the human ribosomal decoding site. Blood Cells Mol Dis 38: 193-198, 2007.
22. Amrani N, Ganesan R, Kervestin S, Mangus DA, Ghosh S and Jacobson A: A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay. Nature 432: 112-118, 2004.
23. Floquet C, Deforges J, Rousset JP and Bidou L: Rescue of non-sense mutated p53 tumor suppressor gene by aminoglyco-sides. Nucleic Acids Res 39: 3350-3362, 2011.
24. De Luca A, Nico B, Rolland JF, et al: Gentamicin treatment in exercised mdx mice: Identification of dystrophin-sensitive pathways and evaluation of efficacy in work-loaded dystrophic muscle. Neurobiol Dis 32: 243-253, 2008.
25. Manuvakhova M, Keeling K and Bedwell DM: Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6: 1044-1055, 2000.
26. Du M, Liu X, Welch EM, Hirawat S, Peltz SW and Bedwell DM: PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model. Proc Natl Acad Sci USA 105: 2064-2069, 2008.
27. Kerem E, Hirawat S, Armoni S, et al: Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: A prospective phase II trial. Lancet 372: 719-727, 2008.
28. Ho G, Reichardt J and Christodoulou J: In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: A potential therapy for phenylketonuria. J Inherit Metab Dis: Mar 27, 2013 (Epub ahead of print).
29. Brumm H, Mühlhaus J, Bolze F, et al: Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through. Obesity (Silver Spring) 20: 1074-1081, 2012.
30. Dranchak PK, Di Pietro E and Snowden A, et al: Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 112: 1250-1258, 2011.
31. Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS and Auricchio A: Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis 36: 363-371, 2013.
32. Engelberg-Kulka H: UGA suppression by normal tRNA Trp in Escherichia coli: Codon context effects. Nucleic Acids Res 9: 983-991, 1981.
33. Nilsson M and Ryden-Aulin M: Glutamine is incorporated at the nonsense codons UAG and UAA in a suppressor-free Escherichia coli strain. Biochim Biophys Acta 1627: 1-6, 2003.
34. Brendel C, Belakhov V, Werner H, et al: Readthrough of nonsense mutations in Rett syndrome: Evaluation of novel aminoglycosides and generation of a new mouse model. J Mol Med (Berl) 89: 389-398, 2011.