In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: A potential therapy for phenylketonuria

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 955-959

  Ho, Gladys ^a,b   Reichardt, Juergen ^c   Christodoulou, John ^a,b,d  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c JAMES COOK UNIVERSITY   (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE ANTIBIOTIC AGENT; ANTIBIOTIC G 418; ATALUREN; GENTAMICIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

AMINO ACID BLOOD LEVEL; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CELL STRAIN HEK293; CONCENTRATION RESPONSE; CONTROLLED STUDY; DRUG EFFICACY; DRUG MECHANISM; ENZYME ACTIVITY; GENE EXPRESSION SYSTEM; GENE INDUCTION; HUMAN; HUMAN CELL; IN VITRO STUDY; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PHENYLALANINE HYDROXYLASE GENE; PHENYLKETONURIA; READ THROUGH NONSENSE MUTATION; WESTERN BLOTTING; WILD TYPE;

AMINOGLYCOSIDES; ANIMALS; CERCOPITHECUS AETHIOPS; CODON, NONSENSE; COS CELLS; DRUG EVALUATION, PRECLINICAL; GENETIC THERAPY; GENTAMICINS; HEK293 CELLS; HUMANS; OXADIAZOLES; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 84888203489     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9602-6     Document Type: Article

References (32)

1. Arakawa M, Shiozuka M, Nakayama Y et al (2003) Negamycin restores dystrophin expression in skeletal and cardiac muscles of mdx mice. J Biochem 134:751-758
2. Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104:375-381
3. Brumm H, Mühlhaus J, Bolze F et al (2012) Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycosides-mediated read-through. Obesity 20:1074-1081
4. Bublitz C (1969) A direct assay for liver phenylalanine hydroxylase. Biochim Biophys Acta 191:249-256
5. 4 for the treatment of phenylketonuria. IDrugs 10:805-13.
6. Ding Z, Harding CO, Rebuffat A, Elzaouk L, Wolff JA, Thöny B (2008) Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Mol Ther 16:673-681
7. Dranchak PK, Di Pietro E, Snowden A et al (2011) Nonsense suppression therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 112:1250-1258
8. Du L, Damoiseaux R, Nahas SA et al (2009) Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med 206:2285-2297
9. Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E (2010) Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab 101:99-109
10. Guldberg P, Rey F, Zschocke J et al (1998) A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63:71-79
11. enu3. Mol Genet Metab 72:27-30
12. Harding CO, Gibson KM (2010) Therapeutic liver repopulation for phenylketonuria. J Inherit Metab Dis 33:681-687
13. Hirawat S, Welch EM, Elfring GL et al (2007) Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47:430-444
14. Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467-469
15. Howard MT, Shirts BH, Petros LM, Flanigan KM, Gesteland RF, Atkins JF (2000) Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 48:164-169
16. Hutchin T, Cortopassi G (1994) Proposed molecular and cellular mechanism for aminoglycoside ototoxicity. Antimicrob Agents Chemother 38:2517-2520
17. Kang TS, Wang L, Sarkissian CN, Gámez A, Scriver CR, Stevens RC (2010) Converting an injectable protein therapeutic into an oral form: phenylalanine ammonia lyase for phenylketonuria. Mol Genet Metab 99:4-9
18. Kaufman S (1957) The enzymatic conversion of phenylalanine to tyrosine. J Biol Chem 226:511-524
19. Lee DH, Koo SK, Lee K-S et al (2004) The molecular basis of phenylketonuria in Koreans. J Hum Genet 49:617-621
20. Linde L, Boelz S, Nissim-Rafinia M et al (2007) Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J Clin Invest 117:683-692
21. MacDonald A, Rocha JC, Van Rijn M, Feillet F (2011) Nutrition in phenylketonuria. Mol Genet Metab 104:S10-S18
22. Manuvakhova M, Keeling K, Bedwell DM (2000) Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6:1044-1055
23. McDonald JD, Charlton CK (1997) Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 39:402-405
24. Mingeot-Leclercq M-P, Tulkens PM (1999) Aminoglycosides: nephrotoxicity. Antimicrob Agents Chemother 43:1003-1012
25. Nudelman I, Rebibo-Sabbah A, Cherniavsky M et al (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 52:2836-2845
26. Nudelman I, Glikin D, Smolkin B, Hainrichson M, Belakhov V, Baasov T (2010) Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of disease-causing nonsense mutations. Bioorg Med Chem 18:3735-3746
27. Ogle JM, Brodersen DE, Clemons WM Jr, Tarry MJ, Carter AP, Ramakrishnan V (2001) Recognition of cognate transfer RNA by the 30S ribosomal subunit. Science 292:897-902
28. Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29:2002-2007
29. Scriver CR, Kaufman S, Eisenmith RC (1995) The hyperphenylalaninemias. In Scriver CR, Beaudet AL, Sly WS, Valle D, (eds) The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, pp 1015-1075
30. Scriver CR, Hurtubise M, Konecki D et al (2003) PAHdb 2003: what a locus-specific knowledgebase can do. Hum Mutat 21:333-344
31. Vadolas J, Wardan H, Orford M, Williamson R, Ioannou PA (2004) Cellular genomic reporter assays for screening and evaluation of inducers of fetal hemoglobin. Hum Mol Genet 13:223-233
32. Welch EM, Barton ER, Zhuo J et al (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447:87-91