Werner syndrome

Definition:

Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. WS patients also experience an increased risk of rare non-epithelial cancers, especially sarcomas. Death usually occurs in the fourth decade from cardiovascular compromise or cancer. WS is caused by mutations of WRN gene, that play a major role in genome stability, particularly during DNA replication and telomere metabolism.

References:

[1]. Asha S Multani, et al. WRN at telomeres: implications for aging and cancer. J Cell Sci. 2007 Mar 1;120(Pt 5):713-21. [Content Brief]

[2]. Payam Mohaghegh, et al. Premature aging in RecQ helicase-deficient human syndromes. Int J Biochem Cell Biol. 2002 Nov;34(11):1496-501. [Content Brief]

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