WRN (Werner syndrome gene)
DEWRN (Werner-Syndrom-Gen)
WRN is a gene that makes a DNA-repair enzyme, part of the RecQ helicase family. It has both helicase and exonuclease activities. It works in several repair pathways: base excision repair, non-homologous end joining, and restarting stalled DNA copying. Inherit two broken copies and you get Werner syndrome. It is a 'segmental progeroid' disorder, where aging features show up early. Patients develop cataracts, atherosclerosis, type 2 diabetes, osteoporosis, and cancers in their 30s and 40s. Historically, mean age at death was about 54 years (Huang et al. 2006, with similar figures from Goto's Japanese Werner registry). A 2022 study (Kato, Koshizaka and colleagues) updated this. For patients dying between 2011 and 2020, mean age at death had risen to about 59, likely from better cancer and vascular care. At the cell level, WRN-deficient cells pile up replication stress, telomere trouble, and genomic instability unusually fast. Werner syndrome is heavily studied as a model of accelerated aging. It helps tell aging-driver mechanisms from bystanders. But because it is 'segmental' (only some aging features), it does not fully reproduce normal aging.
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Sources
- Yu CE, Oshima J, Fu YH, et al.. (1996). Positional Cloning of the Werner's Syndrome Gene. *Science*doi:10.1126/science.272.5259.258
- Oshima J, Sidorova JM, Monnat RJ Jr. (2017). Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. *Ageing Research Reviews*doi:10.1016/j.arr.2016.03.002
