Authors: Patrick Ziegler Hubert Schrezenmeier Jamil Akkad Ute Brassat Lucia Vankann Jens Panse Stefan Wilop Stefan Balabanov Klaus Schwarz Uwe M Martens Tim H Brümmendorf
Publish Date: 2012/04/04
Volume: 91, Issue: 7, Pages: 1115-1120
Abstract
Telomere length TL both reflects and limits the replicative life span of normal somatic cells As a consequence critically shortened telomeres are associated with a variety of disease states Telomere attrition can be counteracted by a nucleoprotein complex containing telomerase Mutations in subunits of telomerase telomerasebinding proteins as well as in members of the shelterin complex have been described both in inherited and acquired bone marrow failure syndromes Here we report on a patient with acquired aplastic anemia and a nonsynonymous variation of codon 1062 of the hTERT gene pAla1062Thr whose substantial and maintained hematologic response to longterm androgen treatment including complete transfusion independence was paralleled by a significant and continued increase in TL in multilineage peripheral blood cells To our knowledge this represents the first case of sustained telomere elongation in hematopoietic stem cells induced by a pharmacological approach in vivo 141 words
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