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EnglishThe readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF). This pharmacological approach suppresses translation termination at premature termination codons (PTCs readthrough) thus restoring the expression of a functional protein. However, readthrough might be limited by the nonsense-mediated mRNA decay (NMD), a cell process that reduces the amount/level of PTCs containing mRNAs. Here we investigate the combined action of Ataluren and caffeine to enhance the readthrough of PTCs. IB3.1 CF cells with a nonsense mutation were treated with caffeine to attenuate the Nonsense-Mediated mRNA Decay (NMD) activity and thus enhance the stability of the nonsense (ns)-CFTR-mRNA to be targeted by Ataluren. Our results show that NMD attenuation by caffeine enhances mRNA stability and more importantly when combined with Ataluren increase the recovery of the full-length CFTR protein.
Lentini, L., Melfi, R., Cancemi, P., Pibiri, I., & Di Leonardo, A. (2019). Caffeine boosts Ataluren's readthrough activity. HELIYON, 5(6), 1-6 [10.1016/j.heliyon.2019.e01963].
| Data di pubblicazione: | 2019 | |
| Titolo: | Caffeine boosts Ataluren's readthrough activity | |
| Autori: | DI LEONARDO, Aldo (Corresponding) | |
| Citazione: | Lentini, L., Melfi, R., Cancemi, P., Pibiri, I., & Di Leonardo, A. (2019). Caffeine boosts Ataluren's readthrough activity. HELIYON, 5(6), 1-6 [10.1016/j.heliyon.2019.e01963]. | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.heliyon.2019.e01963 | |
| Abstract: | The readthrough of nonsense mutations by small molecules like Ataluren is considered a novel therapeutic approach to overcome the gene defect in several genetic diseases as cystic fibrosis (CF). This pharmacological approach suppresses translation termination at premature termination codons (PTCs readthrough) thus restoring the expression of a functional protein. However, readthrough might be limited by the nonsense-mediated mRNA decay (NMD), a cell process that reduces the amount/level of PTCs containing mRNAs. Here we investigate the combined action of Ataluren and caffeine to enhance the readthrough of PTCs. IB3.1 CF cells with a nonsense mutation were treated with caffeine to attenuate the Nonsense-Mediated mRNA Decay (NMD) activity and thus enhance the stability of the nonsense (ns)-CFTR-mRNA to be targeted by Ataluren. Our results show that NMD attenuation by caffeine enhances mRNA stability and more importantly when combined with Ataluren increase the recovery of the full-length CFTR protein. | |
| URL: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6595402/ | |
| Settore Scientifico Disciplinare: | Settore BIO/06 - Anatomia Comparata E Citologia Settore BIO/11 - Biologia Molecolare Settore BIO/18 - Genetica Settore CHIM/06 - Chimica Organica | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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|---|---|---|---|---|
| Heliyon 2019 lentini et al.pdf | Articolo principale | Versione Editoriale | Open Access Visualizza/Apri |
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