Telomerase complex defects in hematological diseases Volume 12, issue 4, Juillet-Août 2006


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Centre Bloomfield de recherche sur le vieillissement, Institut Lady Davis de recherches médicales, Hôpital général juif Sir Mortimer B. Davis, 3755 chemin Côte Sainte Catherine, Montréal, Québec, Canada, H3T 1E2, Département d’anatomie et de biologie cellulaire,, Département de médicine, Université McGill, 3640 rue Université, Montréal, Québec, Canada, H3A 2B4

Telomeres, the ends of linear chromosomes, consist of G-rich sequences whose structure and integrity are maintained by two complexes, “shelterin” and “telomerase”. Human telomerase is composed of an RNA molecule, termed hTR, which serves as a template for the synthesis of telomeric sequences, and a protein component, termed hTERT, which functions as a reverse transcriptase. The telomerase complex contains a number of associated proteins, including dyskerin, which is implicated in ribosome production. Dyskeratosis congenita and related haematological pathologies are currently accepted as diseases of dysfunctional telomere maintenance, resulting from defects in dyskerin, hTR or hTERT. The objective of this review is to present the current view on the biological, fundamental and clinical aspects of dyskeratosis congenita and related haematological pathologies.