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Werner syndrome

Werner's syndrome

 
Werner's syndrome is an autosomal recessive genetic disease caused by mutation of the WRN gene. Patients with this disease show many symptoms of premature ageing, including hair graying and loss, cateracts, atherosclerosis and osteoporosis. They also display some characteristics not directly associated with ageing, including reduced fertility and a predisposition to sarcomas, a rare tumour type.

Cells from patients with Werner's syndrome are genomically unstable and have a reduced division potential. The WRN gene encodes a protein with 3' to 5' DNA helicase activity but as yet its precise celluar function is not known.

References

-  Franchitto A, Pichierri P. Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 complex. Hum Mol Genet. 2002 Oct 1;11(20):2447-53. PMID: #12351580#

-  Shen JC, Loeb LA. The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases. Trends Genet. 2000 May;16(5):213-20. PMID: #10782115#

-  Lombard, D. B. and Guarente, L. (1996). Cloning the gene for Werner syndrome: a disease with many symptoms of premature aging. TIG 12, 283-286.

-  Pennisi (1996) Premaure aging gene discovered. Science 272, 193-194.


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