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Review Article Volume 5 Issue 1
NMD in disease and potential therapies
Young Jin Kim, Mohammad Alinoor Rahman
Received: January 01, 1971 | Published: November 16, 2018
Citation: Kim YJ, Rahman MA. NMD in disease and potential therapies. J Investig Genomics. 2018;5(2):50-54. DOI: 10.15406/jig.2018.05.00077
Abstract
Traditionally, nonsense-mediated mRNA decay (NMD) is known as an mRNA quality control mechanism that prevents potentially toxic truncated proteins to be translated from premature termination codon (PTC)-containing transcripts. However, recent studies have shown that role of NMD extends beyond mRNA surveillance. Here, we review current understanding of various roles played by NMD in the context of normal tissue development and diseases including cancer. We first summarize the mechanism of NMD, and how it controls mRNA surveillance, and describe how NMD coupled with alternative splicing forms a regulatory feedback loop. We further survey how NMD affects disease outcome in the context of hereditary diseases as well as cancer. In summary, NMD is a mode of complex eukaryotic gene regulation that has broad implications in various biological contexts.
Keywords: nonsense-mediated mRNA decay, premature termination codon, exon junction complex, alternative splicing, pre-mRNA, EJC, DECID, UPF1, hypoxia, hereditary diseases
©2018 Kim, et al. This is an open access article distributed under the terms of the, which permits unrestricted use, distribution, and build upon your work non-commercially.