BACKGROUND: The determination of telomere length is useful for the characterization of dyskeratosis congenita (DC) and of aplastic anemias (AA) as well as hematological malignancies. Short telomeres result from a specific defect of telomere maintenance in DC and likely from higher cellular turnover in AA and hematological malignancies. Data are not conclusive for Diamond-Blackfan anemia (DBA), a pure erythroid aplasia due to defects of ribosomal proteins. Our aim was to evaluate the utility of a qPCR method for telomere length assessment to evaluate the diagnostic contribution of telomere measurement in bone marrow failure syndromes (BMFS). PROCEDURE: Telomere length was evaluated by qPCR in peripheral blood cells from 95 normal individuals and 62 patients with BMFS, including 45 patients with DBA. RESULTS: Results obtained with qPCR are comparable with other quantitative methods, such as flow-FISH and Southern blotting. Our data show that only one DBA patient and a minority of other BMFS patients have very short telomeres, defined as less than the 1st percentile of controls. CONCLUSIONS: The qPCR method for telomere length evaluation is an easy alternative to other methods and may thus be valuable in a clinical hematological laboratory setting. Telomere maintenance does not seem to be involved in the pathogenesis of DBA unlike in other BMFSs. (c) 2009 Wiley-Liss, Inc.
BACKGROUND: The determination of telomere length is useful for the characterization of dyskeratosis congenita (DC) and of aplastic anemias (AA) as well as hematological malignancies. Short telomeres result from a specific defect of telomere maintenance in DC and likely from higher cellular turnover in AA and hematological malignancies. Data are not conclusive for Diamond-Blackfan anemia (DBA), a pure erythroid aplasia due to defects of ribosomal proteins. Our aim was to evaluate the utility of a qPCR method for telomere length assessment to evaluate the diagnostic contribution of telomere measurement in bone marrow failure syndromes (BMFS). PROCEDURE: Telomere length was evaluated by qPCR in peripheral blood cells from 95 normal individuals and 62 patients with BMFS, including 45 patients with DBA. RESULTS: Results obtained with qPCR are comparable with other quantitative methods, such as flow-FISH and Southern blotting. Our data show that only one DBApatient and a minority of other BMFS patients have very short telomeres, defined as less than the 1st percentile of controls. CONCLUSIONS: The qPCR method for telomere length evaluation is an easy alternative to other methods and may thus be valuable in a clinical hematological laboratory setting. Telomere maintenance does not seem to be involved in the pathogenesis of DBA unlike in other BMFSs. (c) 2009 Wiley-Liss, Inc.
Authors: Sangkyu Kim; Xiuhua Bi; Malwina Czarny-Ratajczak; Jianliang Dai; David A Welsh; Leann Myers; Michael A Welsch; Katie E Cherry; Jonathan Arnold; Leonard W Poon; S Michal Jazwinski Journal: Biogerontology Date: 2011-10-05 Impact factor: 4.277
Authors: Jaroslav Mokry; Tomas Soukup; Stanislav Micuda; Jana Karbanova; Benjamin Visek; Eva Brcakova; Jakub Suchanek; Jan Bouchal; Doris Vokurkova; Romana Ivancakova Journal: J Biomed Biotechnol Date: 2010-10-04
Authors: Shahinaz M Gadalla; Richard Cawthon; Neelam Giri; Blanche P Alter; Sharon A Savage Journal: Aging (Albany NY) Date: 2010-11 Impact factor: 5.682