NMD has been implicated in the onset of several diseases; for example, NMD-induced loss-of-function was shown to contribute to the onset of certain cancers. Hu and colleagues developed an algorithm to predict NMD and applied it to somatic mutations, finding 73,000 mutations that are predicted to elicit NMD and are associated with significant reduction of gene expression in tumour suppressor genes.95 Interestingly, half of the hypermutated stomach adenocarcinomas are characterized by NMD-eliciting mutations in two genes implicated in translation initiation (LARP4B and EIF5B). Together these results underline the key role of NMD in human pathophysiology.
