期刊
JOURNAL OF CLINICAL MEDICINE
卷 9, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/jcm9020289
关键词
nonsense suppression; premature termination codon; nonsense mediated mRNA decay; beta(0)-thalassemia; readthrough molecules
资金
- FP7-HEALTH-2012 (the UE THALAMOSS Project, Thalassemia Modular Stratification System for Personalized Therapy of beta-Thalassemia) [306201]
- Wellcome Trust [208872/Z/17/Z]
- AIFA [AIFA-2016-02364887]
Several types of thalassemia (including beta(0)39-thalassemia) are caused by nonsense mutations in genes controlling globin production, leading to premature translation termination and mRNA destabilization mediated by the nonsense mediated mRNA decay. Drugs (for instance, aminoglycosides) can be designed to suppress premature translation termination by inducing readthrough (or nonsense suppression) at the premature termination codon. These findings have introduced new hopes for the development of a pharmacologic approach to cure this genetic disease. In the present review, we first summarize the principle and current status of the chemical relief for the expression of functional proteins from genes otherwise unfruitful for the presence of nonsense mutations. Second, we compare data available on readthrough molecules for beta(0)-thalassemia. The examples reported in the review strongly suggest that ribosomal readthrough should be considered as a therapeutic approach for the treatment of beta(0)-thalassemia caused by nonsense mutations. Concluding, the discovery of molecules, exhibiting the property of inducing beta-globin, such as readthrough compounds, is of great interest and represents a hope for several patients, whose survival will depend on the possible use of drugs rendering blood transfusion and chelation therapy unnecessary.
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