Abstract：
Nonsense mutations occur within the open-reading frame of a gene resulting in a premature termination codon (PTC). PTC-containing mRNAs can either be degeraded or cause premature translation termination producing a truncated protein that can be either nonfunctional or toxic. Translational readthrough inducing drugs (TRIDs) are small molecules that are able to induce readthrough, resulting in the restoration of full-length protein expression. The re-expressed proteins usually harbor a missense change. The effciency of individual TRIDs is variable and varies between different genes and even different nonsense mutations in the same gene. This review summarizes factors, including the sequences located upstream and downstream the disease-causing mutation and the type of PTC, affecting the translational readthrough process by modulating the type of amino acid insertion and the efficiency of the process during readthrough following TRIDs treatments.
摘要：
无义突变发生在基因的开放阅读框内,导致过早终止密码子(PTC)。含有PTC的mRNA可以被去叶化或导致过早的翻译终止,产生可以是非功能性或毒性的截短的蛋白质。翻译连读诱导药物（TRID）是能够诱导连读的小分子，导致全长蛋白质表达的恢复。重新表达的蛋白质通常带有错义变化。单个TRID的效率是可变的，并且在不同基因之间变化，甚至在同一基因中的不同无义突变。这篇综述总结了影响因素，包括位于致病突变上游和下游的序列和PTC类型，通过调节氨基酸插入的类型和TRID治疗后的读穿过程的效率来影响翻译读穿过程。
