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Telomere Dysfunction Plays Role in Werner Syndrome

Telomerase can reduce the chromosome end-to-end fusions found in Werner syndrome cells

MONDAY, Feb. 12 (HealthDay News) -- A failure to maintain telomere length may underlie the premature aging, genomic instability and cancer risk associated with Werner syndrome, according to a report published online Feb. 6 in the Proceedings of the National Academy of Sciences Early Edition.

Jan Karlseder, Ph.D., of the Salk Institute for Biological Studies in San Diego, and colleagues used metaphase chromosome analysis to monitor telomeres in cells from patients with Werner syndrome, a disease associated with dysfunction in the DNA repair system due to a mutation in the WRN gene.

The investigators found that telomere shortening was responsible for the chromosome end-to-end fusions commonly found in cells from Werner syndrome patients. These chromosome abnormalities could be reduced by overexpressing telomerase.

"Werner syndrome patients suffer from elevated cancer occurrence, and, because cancer and genome instability have been intrinsically linked, we hypothesize that telomere dysfunction is a critical feature of this human syndrome, relating a telomere replication dysfunction to the incidence of cancer in affected individuals," the authors write.

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