title: The functional mechanisms and clinical application of read-through drugs.
abstract: According to previous reports, nearly one in 10 genetic diseases are caused by nonsense mutations around the world. Nonsense mutations lead to premature transcription terminations in cells, which in turn generate non-functional, truncated proteins. In recent years, read-through drugs are playing increasing prominent roles in the researches related to genetic diseases caused by nonsense mutations. However, due to the fact that the mechanisms lying behind translation termination still remain to be elucidated, the mechanistic research and clinical application of read-through drugs are facing new challenges. This review mainly discusses about the pathogenesis of genetic diseases caused by nonsense mutations, and then introduces the current clinical application of read-through drugs. Finally, we display some problems that remain to be solved and propose some possible coping strategies.
authors.affiliation: School of Medicine, Shanghai Jiao Tong University, Shanghai 200025, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Fu
authors.affiliation: School of Medicine, Shanghai Jiao Tong University, Shanghai 200025, China.
authors.forename: Zai-yue
authors.initials: ZY
authors.lastname: Shu
authors.affiliation: School of Medicine, Shanghai Jiao Tong University, Shanghai 200025, China.
authors.forename: Ming-min
authors.initials: MM
authors.lastname: Gu
mesh_terms: D000617:Aminoglycosides / Q000494:pharmacology / Q000627:therapeutic use; D018389:Codon, Nonsense / Q000187:drug effects / Q000235:genetics; D003550:Cystic Fibrosis / Q000188:drug therapy; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000188:drug therapy; D010069:Oxadiazoles / Q000627:therapeutic use
chemical_list: C540944:5-O-(5-amino-5-deoxyribofuranosyl)-1N-(4-amino-2-hydroxybutanoyl)paromamine; D000617:Aminoglycosides; D018389:Codon, Nonsense; D010069:Oxadiazoles; C515878:ataluren