The suppression of premature termination codons and the repair of splicing mutations in CFTR

Yifat S. Oren, Iwona M. Pranke, Batsheva Kerem, Isabelle Sermet-Gaudelus

Research output: Contribution to journalReview articlepeer-review

26 Scopus citations

Abstract

Premature termination codons (PTC) originate from nucleotide substitution introducing an in-frame PTC. They induce truncated, usually non-functional, proteins, degradation of the PTC containing transcripts by the nonsense-mediated decay (NMD) pathway and abnormal exon skipping. Readthrough compounds facilitate near cognate amino-acyl-tRNA incorporation, leading potentially to restoration of a functional full-length protein. Splicing mutations can lead to aberrantly spliced transcripts by creating a cryptic splice site or destroying a normal site. Most mutations result in disruption of the open reading frame and activation of NMD. Antisense oligonucleotides are single stranded short synthetic RNA-like molecules chemically modified to improve their stability and ability to recognize their target RNAs and modify the splice site. This review focus on recent developments in therapies aiming to improve patients carrying nonsense or splicing mutations.

Original languageAmerican English
Pages (from-to)125-131
Number of pages7
JournalCurrent Opinion in Pharmacology
Volume34
DOIs
StatePublished - Jun 2017

Bibliographical note

Publisher Copyright:
© 2017 Elsevier Ltd

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