Nonsense suppression therapies in ocular genetic diseases

Cellular and Molecular Life Sciences

Volumn 72, Issue 10, 2015, Pages 1931-1938

  Wang, Xia ^a   Gregory Evans, Cheryl Y ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Nonsense suppression; Nonsense mediated decay; Ocular disease; Therapy

Indexed keywords

AMINOGLYCOSIDE; ATALUREN; LUCIFERASE; OXADIAZOLE DERIVATIVE; STOP CODON;

BIOLOGICAL MODEL; DRUG EFFECTS; EYE DISEASES, HEREDITARY; GENETICS; HUMAN; METABOLISM; NONSENSE MEDIATED MRNA DECAY; PHYSIOLOGY; STOP CODON;

AMINOGLYCOSIDES; CODON, NONSENSE; EYE DISEASES, HEREDITARY; HUMANS; LUCIFERASES; MODELS, GENETIC; NONSENSE MEDIATED MRNA DECAY; OXADIAZOLES;

EID: 84931826959     PISSN: 1420682X     EISSN: 14209071     Source Type: Journal    
DOI: 10.1007/s00018-015-1843-0     Document Type: Article

References (55)

1. Bidou L, Allamand V, Rousset JP, Namy O (2012) Sense from nonsense: therapies for premature stop codon diseases. Trends Mol Med 18:679-688
2. Keeling KM, Xue X, Gunn G, Bedwell DM (2014) Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet 15:371-394
3. Salas-Marco J, Bedwell DM (2004) GTP hydrolysis by eRF3 facilitates stop codon decoding during eukaryotic translation termination. Mol Cell Biol 24:7769-7778
4. Alkalaeva EZ, Pisarev AV, Frolova LY, Kisselev LL, Pestova TV (2006) In vitro reconstitution of eukaryotic translation reveals cooperativity between release factors eRF1 and eRF3. Cell 125:1125-1136
5. Mendell JT, Dietz HC (2001) When the message goes awry: disease-producing mutations that influence mRNA content and performance. Cell 107:411-414
6. Peltz SW, Morsy M, Welch EM, Jacobson A (2013) Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med 64:407-425
7. McCaughan KK, Brown CM, Dalphin ME, Berry MJ, Tate WP (1995) Translational termination efficiency in mammals is influenced by the base following the stop codon. Proc Natl Acad Sci USA 92:5431-5435
8. Tate WP, Poole ES, Horsfield JA, Mannering SA, Brown CM, Moffat JG, Dalphin ME, McCaughan KK, Major LL, Wilson DN (1995) Translational termination efficiency in both bacteria and mammals is regulated by the base following the stop codon. Biochem Cell Biol 73:1095-1103
9. Cassan M, Rousset JP (2001) UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals. BMC Mol Biol 2:3
10. 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
11. Behm-Ansmant I, Izaurralde E (2006) Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay. Genes Dev 20:391-398
12. Brogna S, Wen J (2009) Nonsense-mediated mRNA decay (NMD) mechanisms. Nat Struct Mol Biol 16:107-113
13. Chang YF, Imam JS, Wilkinson MF (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76:51-74
14. Huang L, Wilkinson MF (2012) Regulation of nonsense-mediated mRNA decay. Wiley Interdiscip Rev RNA 3:807-828
15. Isken O, Maquat LE (2008) The multiple lives of NMD factors: balancing roles in gene and genome regulation. Nat Rev Genet 9:699-712
16. Kervestin S, Jacobson A (2012) NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol 13:700-712
17. Maquat LE (2004) Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5:89-99
18. Fang Y, Bateman JF, Mercer JF, Lamande SR (2013) Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms. J Cell Sci 126:2551-2560
19. Nguyen LS, Wilkinson MF, Gecz J (2014) Nonsense-mediated mRNA decay: inter-individual variability and human disease. Neurosci Biobehav Rev 46(Pt 2):175-186
20. Popp MW, Maquat L (2013) Organizing principles of mammalian nonsense-mediated mRNA decay. Annu Rev Genet 47:139-165
21. Karam R, Wengrod J, Gardner LB, Wilkinson MF (2013) Regulation of nonsense-mediated mRNA decay: implications for physiology and disease. Biochim Biophys Acta 1829:624-633
22. Nicholson P, Yepiskoposyan H, Metze S, Zamudio Orozco R, Kleinschmidt N, Muhlemann O (2010) Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell Mol Life Sci 67:677-700
23. Schoenberg DR, Maquat LE (2012) Regulation of cytoplasmic mRNA decay. Nat Rev Genet 13:246-259
24. Schweingruber C, Rufener SC, Zund D, Yamashita A, Muhlemann O (2013) Nonsense-mediated mRNA decay - mechanisms of substrate mRNA recognition and degradation in mammalian cells. Biochim Biophys Acta 1829:612-623
25. Hwang J, Maquat LE (2011) Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question. Curr Opin Genet Dev 21:422-430
26. He F, Li X, Spatrick P, Casillo R, Dong S, Jacobson A (2003) Genome-wide analysis of mRNAs regulated by the nonsense-mediated and 5′ to 3′ mRNA decay pathways in yeast. Mol Cell 12:1439-1452
27. Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC (2004) Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet 36:1073-1078
28. Rehwinkel J, Letunic I, Raes J, Bork P, Izaurralde E (2005) Nonsense-mediated mRNA decay factors act in concert to regulate common mRNA targets. RNA 11:1530-1544
29. Tani H, Imamachi N, Salam KA, Mizutani R, Ijiri K, Irie T, Yada T, Suzuki Y, Akimitsu N (2012) Identification of hundreds of novel UPF1 target transcripts by direct determination of whole transcriptome stability. RNA Biol 9:1370-1379
30. Weischenfeldt J, Damgaard I, Bryder D, Theilgaard-Monch K, Thoren LA, Nielsen FC, Jacobsen SE, Nerlov C, Porse BT (2008) NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements. Genes Dev 22:1381-1396
31. Wittmann J, Hol EM, Jack HM (2006) hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay. Mol Cell Biol 26:1272-1287
32. Hoshino S (2012) Mechanism of the initiation of mRNA decay: role of eRF3 family G proteins. Wiley Interdiscip Rev RNA 3:743-757
33. Imataka H, Gradi A, Sonenberg N (1998) A newly identified N-terminal amino acid sequence of human eIF4G binds poly(A)-binding protein and functions in poly(A)-dependent translation. EMBO J 17:7480-7489
34. Wells SE, Hillner PE, Vale RD, Sachs AB (1998) Circularization of mRNA by eukaryotic translation initiation factors. Mol Cell 2:135-140
35. Lee HL, Dougherty JP (2012) Pharmaceutical therapies to recode nonsense mutations in inherited diseases. Pharmacol Ther 136:227-266
36. Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, Baasov T, Bedwell DM, Keeling KM (2014) Long-term nonsense suppression therapy moderates MPS I-H disease progression. Mol Genet Metab 111:374-381
37. Mort M, Ivanov D, Cooper DN, Chuzhanova NA (2008) A meta-analysis of nonsense mutations causing human genetic disease. Hum Mutat 29:1037-1047
38. Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467-469
39. Kerem E, Konstan MW, Boeck KD, Accurso FJ, Sermet-Gaudelus I, Wilschanski M, Elborn JS, Melotti P et al (2014) Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med 2:539-547
40. Allen LA, Raetz CR (1992) Partial phenotypic suppression of a peroxisome-deficient animal cell mutant treated with aminoglycoside G418. J Biol Chem 267:13191-13199
41. Moosajee M, Gregory-Evans K, Ellis CD, Seabra MC, Gregory-Evans CY (2008) Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Hum Mol Genet 17:3987-4000
42. Grayson C, Chapple JP, Willison KR, Webster AR, Hardcastle AJ, Cheetham ME (2002) In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients. J Med Genet 39:62-67
43. Guerin K, Gregory-Evans CY, Hodges MD, Moosajee M, Mackay DS, Gregory-Evans K, Flannery JG (2008) Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Exp Eye Res 87:197-207
44. Gregory-Evans K, Po K, Chang F, Gregory-Evans CY (2012) Pharmacological enhancement of ex vivo gene therapy neuroprotection in a rodent model of retinal degeneration. Ophthalmic Res 47:32-38
45. Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K (2011) PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. Hum Gene Ther 22:537-547
46. Nudelman I, Rebibo-Sabbah A, Shallom-Shezifi D, Hainrichson M, Stahl I, Ben-Yosef T, Baasov T (2006) Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations. Bioorg Med Chem Lett 16:6310-6315
47. Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T, Ben-Yosef T (2007) In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Hum Genet 122:373-381
48. Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, Schacht J, Pilch DS, Ben-Yosef T, Baasov T (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 52:2836-2845
49. Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K (2014) Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest 124:111-116
50. Schwarz N, Carr A-J, Lane A, Moeller F, Chen LL, Aguila M, Nommiste B, Muthiah MN, Kanuga N, Wolfrum U, Nagel-Wolfrum K, da Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ (2014) Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. doi: 10.1093/hmg/ddu509
51. McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G, McLean WHI (2013) A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol 11:1-8
52. Dranchak PK, Di Pietro E, Snowden A, Oesch N, Braverman NE, Steinberg SJ, Hacia JG (2011) Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. J Cell Biochem 112:1250-1258
53. Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR et al (2007) PTC124 targets genetic disorders caused by nonsense mutations. Nature 447:87-93
54. Yu Y, Chen P, Li J, Zhu Y, Zhai Y, Yao K (2014) A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. BMC Med Genet 15:6
55. Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K et al (2013) Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet 93:110-117