Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

Journal of Cystic Fibrosis

Volumn 15, Issue 2, 2016, Pages 158-162

  Zomer van Ommen, D D ^a   Vijftigschild, L A W ^a   Kruisselbrink, E ^a   Vonk, A M ^a   Dekkers, J F ^a   Janssens, H M ^c   de Winter de Groot, K M ^b   van der Ent, C K ^b   Beekman, J M ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Cystic fibrosis; G418; Intestinal organoids; Nonsense suppression; PTC124; Read through

Indexed keywords

ANTIBIOTIC G 418; ATALUREN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; COCCIDIOSTATIC AGENT; GENTAMICIN; OXADIAZOLE DERIVATIVE; RNA; STOP CODON;

ARTICLE; CODON; CYSTIC FIBROSIS; CYSTIC FIBROSIS INTESTINAL ORGANOID; CYTOPLASM; DRUG EFFICACY; HUMAN; HUMAN CELL; HUMAN TISSUE; NONSENSE MUTATION; CELL CULTURE; CYTOLOGY; DRUG EFFECTS; GENETICS; METABOLISM; STOP CODON;

CELLS, CULTURED; COCCIDIOSTATS; CODON, NONSENSE; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENTAMICINS; HUMANS; ORGANOIDS; OXADIAZOLES; RNA;

EID: 84938629987     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2015.07.007     Document Type: Article

References (22)

1. Riordan J.R. CFTR function and prospects for therapy. Annu. Rev. Biochem. [Internet] Jan 2 2008, 77:701-726. [Annual Reviews, [cited 2014 Oct 12], Available from: http://www.annualreviews.org/doi/full/10.1146/annurev.biochem.75.103004.142532?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed].
2. Sosnay P.R., Siklosi K.R., Van Goor F., Kaniecki K., Yu H., Sharma N. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat. Genet. [Internet] Aug 25 2013, 45(10):1160-1167. [Nature Publishing Group, [cited 2013 Oct 1], Available from: http://www.nature.com/ng/journal/v45/n10/full/ng.2745.html#supplementary-information].
3. Van Goor F., Hadida S., Grootenhuis P.D.J., Burton B., Cao D., Neuberger T., et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl. Acad. Sci. U. S. A. [Internet] Nov 3 2009, 106(44):18825-18830. [Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2773991&tool=pmcentrez&rendertype=abstract].
4. Van Goor F., Hadida S., Grootenhuis P.D.J., Burton B., Stack J.H., Straley K.S., et al. Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc. Natl. Acad. Sci. U. S. A. [Internet] Nov 15 2011, 108(46):18843-18848. [[cited 2014 Sep 13], Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3219147&tool=pmcentrez&rendertype=abstract].
5. De Boeck K., Zolin A., Cuppens H., Olesen H.V., Viviani L. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. J. Cyst. Fibros. [Internet] Jan 15 2014, 13(4):403-409. [European Cystic Fibrosis Society, [cited 2014 Mar 5]].
6. Howard M., Frizzell R.A., Bedwell D.M. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat. Med. [Internet] Apr 1996, 2:467-469. [[cited 2014 Nov 14], Available from: http://www.ncbi.nlm.nih.gov/pubmed/8597960].
7. Keeling K.M., Wang D., Conard S.E., Bedwell D.M. Suppression of premature termination codons as a therapeutic approach. Crit. Rev. Biochem. Mol. Biol. 2013, 47(5):444-463.
8. Welch E.M., Barton E.R., Zhuo J., Tomizawa Y., Friesen W.J., Trifillis P., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature [Internet] May 3 2007, 447(7140):87-91. [[cited 2013 Aug 30], Available from: http://www.ncbi.nlm.nih.gov/pubmed/1745].
9. Du M., Liu X., Welch E.M., Hirawat S., Peltz S.W., Bedwell D.M. 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. U. S. A. [Internet] Feb 12 2008, 105(6):2064-2069. [[cited 2013 Nov 20], Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2538881&tool=pmcentrez&rendertype=abstract].
10. Gonzalez-Hilarion S., Beghyn T., Jia J., Debreuck N., Berte G., Mamchaoui K., et al. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis [Internet] Jan 2012, 7(1):58. [[cited 2013 Oct 1], Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3562214&tool=pmcentrez&rendertype=abstract].
11. McElroy S.P., Nomura T., Torrie L.S., Warbrick E., Gartner U., Wood G., et al. A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol. [Internet] Jun 2013, 11(6):e1001593. [[cited 2013 Aug 16], Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3692445&tool=pmcentrez&rendertype=abstract].
12. Auld D.S., Thorne N., Maguire W.F., Inglese J. Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression. Proc. Natl. Acad. Sci. U. S. A. [Internet] Mar 3 2009, 106(9):3585-3590. [[ cited 2014 Mar 5], Available from: http://www.pnas.org/content/106/9/3585.long].
13. Auld D.S., Lovell S., Thorne N., Lea W.A., Maloney D.J., Shen M., et al. Molecular basis for the high-affinity binding and stabilization of firefly luciferase by PTC124. Proc. Natl. Acad. Sci. U. S. A. [Internet] Mar 16 2010, 107(11):4878-4883. [[cited 2014 Feb 25], Available from: http://www.pnas.org/content/107/11/4878.long].
14. Sermet-Gaudelus I., De Boeck K., Casimir G.J., Vermeulen F., Leal T., Mogenet A., et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am. J. Respir. Crit. Care Med. [Internet] Nov 15 2010, 182(10):1262-1272. [[cited 2013 Oct 8] Available from: http://www.ncbi.nlm.nih.gov/pubmed/20622033].
15. Kerem E., Hirawat S., Armoni S., Yaakov Y., Shoseyov D., Cohen M., et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet [Internet] Aug 30 2008, 372(9640):719-727. [[cited 2014 Feb 20], Available from: http://www.sciencedirect.com/science/article/pii/S014067360861168X].
16. Wilschanski M., Miller L.L., Shoseyov D., Blau H., Rivlin J., Aviram M., et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur. Respir. J. [Internet] Jul 2011, 38(1):59-69. [[cited 2014 Mar 5], Available from: http://www.ncbi.nlm.nih.gov/pubmed/21233271].
17. Kerem E., Konstan M.W., De Boeck K., Accurso F.J., Sermet-Gaudelus I., Wilschanski M., et al. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir. Med. [Internet] Jul 2014, 2(7):539-547. [[cited 2014 Nov 7]].
18. Finkel R.S., Flanigan K.M., Wong B., Bönnemann C., Sampson J., Sweeney H.L., et al. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One [Internet] Jan 2013, 8(12):e81302. [[cited 2014 Oct 13], Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3859499&tool=pmcentrez&rendertype=abstract].
19. Hoffman E.P., Connor E.M. Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies. Discov. Med. [Internet] Nov 2013, 16(89):233-239. [[cited 2014 Nov 14], Available from: http://www.ncbi.nlm.nih.gov/pubmed/24229740].
20. Dekkers J.F., Wiegerinck C.L., de Jonge H.R., Bronsveld I., Janssens H.M., de Winter-de Groot K.M., et al. A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat. Med. [Internet] Jul 2013, 19(7):939-945. [Nature Publishing Group, [cited 2014 Jan 13], Available from: http://www.ncbi.nlm.nih.gov/pubmed/23727931].
21. Sato T., Vries R.G., Snippert H.J., van de Wetering M., Barker N., Stange D.E., et al. Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche. Nature [Internet] May 14 2009, 459(7244):262-265. [Macmillan Publishers Limited. All rights reserved, [cited 2013 Aug 7], Available from: http://dx.doi.org/10.1038/nature07935].
22. Xue X., Mutyam V., Tang L., Biswas S., Du M., Jackson L.A., et al. Synthetic Aminoglycosides Efficiently Suppress CFTR Nonsense Mutations and are Enhanced by Ivacaftor. Am. J. Respir. Cell Mol. Biol. [Internet] Nov 19 2013, 50:805-816. [[cited 2013 Nov 27]; Available from: http://www.ncbi.nlm.nih.gov/pubmed/24251786].