摘 要：无义介导的mRNA降解机制(nonsense-mediated mRNA decay，NMD)是真核细胞内重要的RNA质量监控机制，能够识别并降解含有提前终止子(premature termination codon，PTC)的mRNA，避免细胞内积累有害的截短蛋白质产物。同时，NMD机制还调控着大量不含PTC的mRNA稳定性，影响其蛋白质产物的含量。现综述了NMD机制的底物、调控因子及其对人类遗传病治疗意义的最新研究进展。

Abstract: Nonsense-mediated mRNA decay (NMD) is a mRNA quality-control mechanism in eukaryotic cells. NMD recognizes and degrades mRNAs that harbor a premature termination codon (PTC), thereby avoiding the accumulation of harmful truncated proteins. Besides, NMD affects stabilities of a plethora of physiological mRNAs, and regulates the concentrations of encoding proteins. Here, the recent studies on the substrates of NMD, regulators and its potential therapeutic significance for human genetic diseases were summarized.