Skip to Main content Skip to Navigation
Journal articles

Rescue of nonsense mutations by amlexanox in human cells.

Abstract : ABSTRACT: BACKGROUND: Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense-mediated mRNA decay (NMD). Strategies to rescue the expression of nonsense-containing mRNAs have been developed such as NMD inhibition or nonsense mutation readthrough. METHODS: Using a dedicated screening system, we sought molecules capable to block NMD. Additionally, 3 cell lines derived from patient cells and harboring a nonsense mutation were used to study the effect of the selected molecule on the level of nonsense-containing mRNAs and the synthesis of proteins from these mutant mRNAs. RESULTS: We demonstrate here that amlexanox, a drug used for decades, not only induces an increase in nonsense-containing mRNAs amount in treated cells, but also leads to the synthesis of the full-length protein in an efficient manner. We also demonstrated that these full length proteins are functional. CONCLUSIONS: As a result of this dual activity, amlexanox may be useful as a therapeutic approach for diseases caused by nonsense mutations.
Document type :
Journal articles
Complete list of metadata
Contributor : Ed. BMC Connect in order to contact the contributor
Submitted on : Friday, February 1, 2013 - 9:16:53 PM
Last modification on : Monday, March 14, 2022 - 11:28:02 AM
Long-term archiving on: : Monday, June 17, 2013 - 6:22:31 PM



Sara Gonzalez-Hilarion, Terence Beghyn, Jieshuang Jia, Nadège Debreuck, Gonzague Berte, et al.. Rescue of nonsense mutations by amlexanox in human cells.. Orphanet Journal of Rare Diseases, BioMed Central, 2012, 7 (1), pp.58. ⟨10.1186/1750-1172-7-58⟩. ⟨inserm-00783891⟩



Record views


Files downloads