Cancer syndromes and therapy by stop-codon readthrough

被引：61

作者：

Bordeira-Carrico, Renata ^{[1
]}

Pego, Ana Paula ^{[2
]}

Santos, Manuel ^{[3
,4
]}

Oliveira, Carla ^{[1
,5
]}

机构：

[1] Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, P-4200465 Oporto, Portugal

[2] Univ Porto, INEB Inst Engn BioMED, P-4150180 Oporto, Portugal

[3] Univ Aveiro, Dept Biol, RNA Biol Lab, P-3810193 Aveiro, Portugal

[4] Univ Aveiro, CESAM, P-3810193 Aveiro, Portugal

[5] Univ Porto, Fac Med, P-4200319 Oporto, Portugal

来源：

TRENDS IN MOLECULAR MEDICINE | 2012年 / 18卷 / 11期

关键词：

aminoglycosides; hereditary cancer syndromes; nonsense-suppression; PTC124; readthrough; suppressor-tRNA; nonsense-mediated decay (NMD); premature termination codon (PTC); MESSENGER-RNA DECAY; TRANSMEMBRANE CONDUCTANCE REGULATOR; CYSTIC-FIBROSIS PATIENTS; GERM-LINE MUTATIONS; NONSENSE MUTATIONS; IN-VITRO; TRANSLATIONAL READTHROUGH; GENTAMICIN TREATMENT; PTC124; TREATMENT; AMINO-ACIDS;

D O I：

10.1016/j.molmed.2012.09.004

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：667 / 678

页数：12

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