Research
Hormonal
Progeria (HGPS) is caused by a splicing mutation in the LMNA gene producing progerin, which sequesters in the nuclear membrane and reduces SIRT1 activity, modeling vascular aging.
Understanding progeria mechanisms aids research into normal vascular aging.
GoodSupportsHIGH confidence
A silent C to T mutation in exon 11... producing a variant lacking 150 nucleotides and a truncated protein called progerin... Progerin is abnormally processed and becomes sequestered in the nuclear membrane, decreasing the acetylase activity of SIRT1.
Why this rating
Well-established genetic mechanism in HGPS patients.
Source
The emerging role of alternative splicing in senescence and aging
Mathieu Deschênes et al. · Aging Cell · 2017
DOI 10.1111/acel.12646
narrative_reviewCited 169×
Read the paper DOI resolved against Crossref · corpus check 2026-06-10
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