Premature termination codon read-through drugs offer opportunities for treatment of multiple rare genetic diseases including cystic fibrosis. We here analyzed the read-through efficacy of PTC124 and G418 using human cystic fibrosis intestinal organoids.
G418-mediated read-through induced only limited CFTR function, but functional restoration of CFTR by PTC124 could not be confirmed. These studies suggest that better read-through agents are needed for robust treatment of nonsense mutations in cystic fibrosis.

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Journal of Cystic Fibrosis
Erasmus MC: University Medical Center Rotterdam

Zomer-van Ommen, D.D, Vijftigschild, L.A.W, Kruisselbrink, E, Vonk, A.M, Dekkers, J.F, Janssens, H.M, … Beekman, J.M. (2016). Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids. Journal of Cystic Fibrosis, 15(2), 158–162. doi:10.1016/j.jcf.2015.07.007