Aminoglycoside-induced suppression of CYP2C19*3 premature stop codon

Pharmacogenetics and Genomics

Volumn 21, Issue 11, 2011, Pages 694-700

  Fuchshuber Moraes, Mateus ^a   Sampaio Carvalho, Renato ^a   Rimmbach, Christian ^c   Rosskopf, Dieter ^c   Alex Carvalho, Marcelo ^a,b   Suarez Kurtz, Guilherme ^a  

^a INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^b Instituto Federal Do Rio de Janeiro   (Brazil)

^c UNIVERSITY OF GREIFSWALD   (Germany)

Author keywords

CYP2C19; G418; gentamicin; premature stop codon; readthrough

Indexed keywords

7 ETHOXYCOUMARIN; ANTIBIOTIC G 418; CYTOCHROME P450 2C19; GENTAMICIN;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME REPRESSION; FLOW CYTOMETRY; FLUORESCENCE MICROSCOPY; GENE EXPRESSION; HELA CELL; HUMAN; HUMAN CELL; HYDROXYLATION; IMMUNOBLOTTING; PHARMACOGENETICS; PRIORITY JOURNAL; STOP CODON;

EID: 80054986433     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328349daba     Document Type: Article

References (26)

1. Zanger UM, Turpeinen M, Klein K, Schwab M. Functional pharmacogenomics/genomics of human cytochromes P450 involved in drug biotransformation. Anal Bioanal Chem 2008; 392:1093-1108.
2. Desta Z, Zhao X, Shin JG, Flockhart DA. Clinical significance of the cytochrome P450 2C19 genetic polymorphism. Clin Pharmacokinet 2002; 41:913-958.
3. Home page of the human cytochrome P450 (CYP) allele nomenclature committee 2008. http://www.cypalleles.ki.se [Accessed 20 February 2011].
4. De Morais SM,Wilkinson GR, Blaisdell J, Meyer UA, Nakamura K, Goldstein JA. Identification of a new genetic defect responsible for the polymorphism of (S)-mephenytoin metabolism in Japanese. Mol Pharmacol 1994; 46: 594-598.
5. Furuta K, Adachi K, Ohara S, Morita T, Tanimura T, Koshino K, et al. Relationship between the acid-inhibitory effect of two proton pump inhibitors and CYP2C19 genotype in Japanese subjects: a randomized two-way crossover study. J Int Med Res 2010; 38:1473-1483.
6. Shuldiner AR, O'Connell JR, Bliden KP, Gandhi A, Ryan K, Horenstein RB, et al. Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy. JAMA 2009; 302: 849-857.
7. Mrazek DA, Biernacka JM, O'Kane DJ, Black JL, Cunningham JM, Drews MS, et al. CYP2C19 variation and citalopram response. Pharmacogenet Genomics 2011; 21:1-9.
8. Bravo-Villalta HV, Yamamoto K, Nakamura K, Bayá A, Okada Y, Horiuchi R. Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: an investigative and comparative study. Eur J Clin Pharmacol 2005; 61:179-184.
9. Keeling KM, Bedwell DM. Pharmacological suppression of premature stop mutations that cause genetic diseases. Curr Pharmacogenomics 2005; 3:259-269.
10. Keeling KM, Bedwell DM. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. J Mol Med 2002; 80:367-376.
11. 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.
12. Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 2003; 349:1433-1441.
13. Sermet-Gaudelus I, Renouil M, Fajac A, Bidou L, Parbaille B, Pierrot S, et al. In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med 2007; 5:5.
14. Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, et al. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010; 67:771-780.
15. 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.
16. Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA. Alpha-Liduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 2004; 338:453-462.
17. Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989; 77:51-59.
18. Donato MT, Jimé nez N, Castell JV, Gómez-Lechó n MJ. Fluorescence-based assays for screening nine cytochrome P450 (P450) activities in intact cells expressing individual human P450 enzymes. Drug Metab Dispos 2004; 32:699-706.
19. Heier CR, DiDonato CJ. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet 2009; 18:1310-1322.
20. Salas-Marco J, Bedwell DM. Discrimination between defects in elongation fidelity and termination efficiency provides mechanistic insights into translational readthrough. J Mol Biol 2005; 348:801-815.
21. Manuvakhova M, Keeling K, Bedwell DM. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in mammalian translation system. RNA 2000; 6:1044-1055.
22. Sangkuhl K, Schulz A, Römpler H, Yun J, Wess J, Schö neberg T. Aminoglycoside-mediated rescue of a disease causing nonsense mutation in the V2 vasopressin receptor gene in vitro and in vivo. Hum Mol Genet 2004; 13:893-903.
23. Nilsson M, Rydé n-Aulin M. Glutamine is incorporated at the nonsense codons UAG and UAA in a suppressor-free Escherichia coli strain. Biochim Biophys Acta 2003; 1627:1-6.
24. Durante-Mangoni E, Grammatikos A, Utili R, Falagas ME. Do we still need the aminoglycosides? Int J Antimicrob Agents 2009; 33:201-205.
25. Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 2009; 52:2836-2845.
26. Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447:87-91.