Cellular Senescence is the phenomenon in which cells permanently arrest (a.k.a. cell growth ceases), which is a normal aging mechanism. While the lack of cellular senescence may at first glance seem a boon to anti-aging efforts, the lack of these signals and this pathway would interfere with healthy aging as the body knows it and could cause significant problems.
Studies have now demonstrated that TREX1 would seem to be directly linked to the normal process of cellular senescence (aging), and that mutations in the TREX1 gene seem to lead to erroneous regulation of senescence-related genes. It was also noticed that many of the TREX1 mutation samples were deficient in histone counts, and this could be related to improper chromatin folding (an underlying issue in several age-related diseases). Therefore, it is possible that this dysfunctional senescence may be an underlying mechanism of RVCL – and, thus, something to target.
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As more RVCL patients are identified, and research continues, we are optimistic that more studies will lead to more breakthroughs and, eventually, a strong therapeutic option. Stay tuned for more updates, and visit us at RVCL.org!