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Werner syndrome (WRN)

WRN is a rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. Currently all known WS mutations produces prematurely terminated proteins.

Cells from patients with WS show premature replicative senescence and an extended S-phase compared with cells derived from normal individuals. WS cells are also hypersensitive to selected DNA-damaging agents including 4-nitroquinoline-1-oxide  (4NQO) and exhibit increased genomic instability indicated by elevated levels of DNA deletions, translocations, and chromosomal breaks. These observations and previous studies support a role for WRN in replication and/or anti-recombination pathways. Furthermore, WS cells display some defects in telomere metabolism, including increased rates of telomere shortening and deficiencies in repair at telomeres. The expression of telomerase in WS cell lines prevented premature replicative senescence and partially reversed the hypersensitivity to 4NQO. WRN plays an important role in general DNA, and possibly telomere, metabolism by participating in DNA repair, replication, and/or recombination pathways.



TYPE: premature aging, risk of malignant disease, chromosomal instability, eye or vision problem

DNAtraffic protein(s) related to disease: RECQL2 (WRN)

OMIM: 277700

Last modification date: Aug. 22, 2011