Aspect of Telomerase mutations
Telomerase mutations have been reported with several human genetic diseases such as DKC, IPF etc., I would like to know whether any telomerase (either in TERT, TERC or DKC1) mutations have been reported/ linked to Werner Syndrome?
The WS gene (WRN) encodes a member of the RecQ family of DNA helicases and it has previously been reported that fibroblasts derived from the patients with Werner syndrome show the accelerated senescence much the same as in vivo phenotype typical of significant telomere shrinkage. Fiona S. Wyllie et al. have demonstrated that AG03141B:pBABE-hTERT clones, the immortalization of the fibroblasts of Werner syndrome, rescued the phenotype of accelerated aging. That is why TERT is considered to be an essential molecule to determine the cellular behavior of Werner syndrome.
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