title: Cancer syndromes and therapy by stop-codon readthrough.
abstract: Several hereditary cancer syndromes are associated with nonsense mutations that create premature termination codons (PTC). Therapeutic strategies involving readthrough induction partially restore expression of proteins with normal function from nonsense-mutated genes, and small molecules such as aminoglycosides and PTC124 have exhibited promising results for treating patients with cystic fibrosis and Duchenne muscular dystrophy. Transgenic expression of suppressor-tRNAs and depleting translation termination factors are, among others, potential strategies for treating PTC-associated diseases. In this review, the potential of using readthrough strategies as a therapy for cancer syndromes is discussed, and we consider the effect of nonsense-mediated decay and other factors on readthrough efficiency.
authors.affiliation: Institute of Molecular Pathology and Immunology of the University of Porto, Portugal.
authors.forename: Renata
authors.initials: R
authors.lastname: Bordeira-Carriço
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Pêgo
authors.forename: Manuel
authors.initials: M
authors.lastname: Santos
authors.forename: Carla
authors.initials: C
authors.lastname: Oliveira
mesh_terms: D000617:Aminoglycosides / Q000494:pharmacology / Q000627:therapeutic use; D000818:Animals; D000970:Antineoplastic Agents / Q000494:pharmacology / Q000627:therapeutic use; D002986:Clinical Trials as Topic; D018389:Codon, Nonsense; D018388:Codon, Terminator; D018014:Gene Transfer Techniques; D015316:Genetic Therapy; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics* / Q000628:therapy*; D059365:Nonsense Mediated mRNA Decay; D014176:Protein Biosynthesis / Q000187:drug effects
chemical_list: D000617:Aminoglycosides; D000970:Antineoplastic Agents; D018389:Codon, Nonsense; D018388:Codon, Terminator