Genetically, Smad2 and Smad4 are frequently mutated or deleted in certain human cancers whereas Smad3 mutation or deletion is infrequent.
For example, in cancer (where the cell's epigenetic patterns go just as awry as everything else), the same tumour suppressor genes that are often lost by mutation or deletion can also be eliminated by abnormal methylation patterns in that part of the DNA.
Mutation or deletion of p53 causes loss of glycolytic inhibitors like TIGAR, PTEN, and SCO2.
Spinal muscular atrophy (SMA), a recessive, neuromuscular disease, is caused by a mutation or deletion in the SMN1 gene.
Also, mutation or deletion of genes involved in DNA damage repair or chromatin remodeling, result in premature aging phenotypes (Ghosh and Zhou, 2014).
One fundamental reason for treatment failure is that it is designed to activate apoptosis genes (eg, TP53) that may be unavailable because of mutation or deletion.
We found that mutation or deletion of one subunit of a co-regulated complex was often associated with a collateral reduction in protein expression of additional complex members.
Mutation or deletion of either the AP-1 or the Smad element attenuated TGF-β1 responsiveness of the − 4.76 kb NOX4 promoter.
Increasing evidence showed that unlike gene mutation or deletion, epigenetic changes during the aging process of organism can be reversed, making it a promising target to attenuate the aging process.
A germline mono-allelic mutation or deletion of RUNX1 [69] has been described in FPD (Familial Platelet Dysfunction) disease.
In about half of human cancers this is due to mutation or deletion of the TP53 gene itself.
