Guo Wen-Ting, Xu Wang-Yang, Gu Ming-Min
Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yi Chuan. 2012 Aug;34(8):935-42. doi: 10.3724/sp.j.1005.2012.00935.
Nonsense-mediated mRNA decay (NMD) is a widespread quality control mechanism in eukaryotic cells. It can recognize and degrade aberrant transcripts harbouring a premature translational termination codon (PTC), and thereby prevent the production of C-terminally truncated proteins which might be deleterious. Approximately, 30% of human genetic diseases are caused by transcripts containing PTCs. These transcripts are potential targets of NMD. As for monogenic diseases, NMD has effects on the phenotype or mode of inheritance. Here, we explain the mechanism of this surveillance pathway, and take several neuromuscular disorders as examples to discuss its influence for human monogenic diseases. The deeper understanding for NMD will shed light on the nosogenesis and therapies of monogenic diseases.
无义介导的mRNA降解（NMD）是真核细胞中一种广泛存在的质量控制机制。它能够识别并降解含有提前翻译终止密码子（PTC）的异常转录本，从而防止产生可能有害的C末端截短蛋白。大约30%的人类遗传疾病是由含有PTC的转录本引起的。这些转录本是NMD的潜在作用靶点。对于单基因疾病而言，NMD会对其表型或遗传模式产生影响。在此，我们解释这一监测途径的机制，并以几种神经肌肉疾病为例讨论其对人类单基因疾病的影响。对NMD的更深入理解将为单基因疾病的发病机制和治疗提供线索。
