Opresko Patricia L
Department of Environmental and Occupational Health, University of Pittsburgh Graduate School of Public Health, Bridgeside Pt., Pittsburgh, PA 15219, United States.
Mech Ageing Dev. 2008 Jan-Feb;129(1-2):79-90. doi: 10.1016/j.mad.2007.10.007. Epub 2007 Oct 30.
Werner syndrome is an autosomal recessive disorder resulting from loss of function of the RecQ helicase, WRN protein. WS patients prematurely develop numerous clinical symptoms and diseases associated with aging early in life and are predisposed to cancer. WRN protein and many other RecQ helicases in general, seem to function during DNA replication in the processing of stalled replication forks. Genetic, cellular and biochemical evidence support roles for WRN in proper replication and repair of telomeric DNA, and indicate that telomere dysfunction contributes to the WS disease pathology.
沃纳综合征是一种常染色体隐性疾病,由RecQ解旋酶WRN蛋白功能丧失引起。沃纳综合征患者在生命早期过早出现许多与衰老相关的临床症状和疾病,且易患癌症。一般来说,WRN蛋白和许多其他RecQ解旋酶似乎在DNA复制过程中参与停滞复制叉的处理。遗传学、细胞和生化证据支持WRN在端粒DNA的正常复制和修复中发挥作用,并表明端粒功能障碍导致了沃纳综合征的疾病病理。