Enhanced telomere shortening in transformed lymphoblasts from patients with X linked dyskeratosis.

ABSTRACT: AIM:Dyskeratosis congenita (DC) is characterised by the failure of those tissues that are rapidly dividing in the adult, particularly the skin, mucosae, and haemopoietic system. The X linked form of the disease is caused by mutations of the DKC1 gene, which encodes dyskerin, a protein that is necessary for the function of telomerase. Cultured DC lymphoblastoid cells are characterised by a reduced expansion of the cell population because of the progressive increase in apoptosis compared with the number of cell divisions. This report aimed to verify whether this is caused by a defect in telomerase function. METHODS:Variations in telomere length over time were evaluated in two cultured lymphoblastoid cell lines derived from patients with X linked DC and control cells derived from a non-affect

SUBMITTER: Montanaro L 

PROVIDER: S-EPMC1770038 | biostudies-literature | 2003 Aug

REPOSITORIES: biostudies-literature