Valutazione dell'azione readthorough della molecola PTC124 su sistemi modello cellulari contenenti mutazioni non senso e in cellule epiteliali bronchiali IB3.1 (delF508/W1282X) derivate da pazienti affetti da fibrosi cistica.

Raffaella Melfi, Laura Lentini, Giulia Carmen Gallucci

Research output: Contribution to conferenceOtherpeer-review


[automatically translated] About 10% of patients with cystic fibrosis (CF) in the CFTR gene mutations has no sense (or 'stop': UGA, UAG or UAA, Class I mutations) that prematurely block the synthesis of the protein. Currently there is no cure for this type of mutations but you are trying to identify the molecules that are capable of inducing the translation of premature stop codons (readthrough) which, compared with already known molecules such as G418, have reduced side effects and greater specificity for a particular codon. A small molecule that appears to possess such activity is the PTC124 (Welch, 2007). But to date, there is still no consensus on the mechanism of action of this molecule (protein stabilization, overcoming the stop codon or other mechanisms) (Welch, 2007; Auld, 2009). In order to clarify this we have introduced in the gene encoding GFP protein PBOS-H2BGFP plasmid a stop codon TGA using site-directed mutagenesis. HeLa cells transfected with this vector and IB3.1 cell (FC) were used to evaluate the ability to induce readthrough of PTC124.
Original languageItalian
Number of pages1
Publication statusPublished - 2013

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