Behm-Ansmant Isabelle, Kashima Isao, Rehwinkel Jan, Saulière Jérôme, Wittkopp Nadine, Izaurralde Elisa
MPI for Developmental Biology, Spemannstrasse 35, D-72076 Tübingen, Germany.
FEBS Lett. 2007 Jun 19;581(15):2845-53. doi: 10.1016/j.febslet.2007.05.027. Epub 2007 May 21.
Nonsense-mediated mRNA decay (NMD) is an mRNA surveillance pathway which ensures the rapid degradation of mRNAs containing premature translation termination codons (PTCs or nonsense codons), thereby preventing the accumulation of truncated and potentially harmful proteins. In this way, the NMD pathway contributes to suppressing or exacerbating the clinical manifestations of specific human genetic disorders. Studies in model organisms have led to the identification of the effectors of the NMD pathway, and illuminated the mechanisms by which premature stops are discriminated from natural stops, so that only the former trigger rapid mRNA degradation. These studies are providing important insights that will aid the development of new treatments for at least some human genetic diseases.
无义介导的mRNA降解（NMD）是一种mRNA监测途径，可确保快速降解含有过早翻译终止密码子（PTC或无义密码子）的mRNA，从而防止截短的和潜在有害的蛋白质积累。通过这种方式，NMD途径有助于抑制或加剧特定人类遗传疾病的临床表现。对模式生物的研究已导致鉴定出NMD途径的效应因子，并阐明了将过早终止与自然终止区分开来的机制，以便只有前者触发mRNA的快速降解。这些研究正在提供重要的见解，这将有助于开发至少一些人类遗传疾病的新疗法。
