Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation.
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Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation. / Ziegler, Patrick; Schrezenmeier, Hubert; Akkad, Jamil; Brassat, Ute; Vankann, Lucia; Panse, Jens; Wilop, Stefan; Balabanov, Stefan; Schwarz, Klaus; Martens, Uwe M; Brümmendorf, Tim H.
In: ANN HEMATOL, Vol. 91, No. 7, 7, 2012, p. 1115-1120.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Telomere elongation and clinical response to androgen treatment in a patient with aplastic anemia and a heterozygous hTERT gene mutation.
AU - Ziegler, Patrick
AU - Schrezenmeier, Hubert
AU - Akkad, Jamil
AU - Brassat, Ute
AU - Vankann, Lucia
AU - Panse, Jens
AU - Wilop, Stefan
AU - Balabanov, Stefan
AU - Schwarz, Klaus
AU - Martens, Uwe M
AU - Brümmendorf, Tim H
PY - 2012
Y1 - 2012
N2 - 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, telomerase-binding 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 (p.Ala1062Thr) whose substantial and maintained hematologic response to long-term 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).
AB - 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, telomerase-binding 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 (p.Ala1062Thr) whose substantial and maintained hematologic response to long-term 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).
KW - Humans
KW - Male
KW - Middle Aged
KW - Treatment Outcome
KW - Mutation
KW - Heterozygote
KW - Telomerase/genetics
KW - Androgens/therapeutic use
KW - Anemia, Aplastic/diagnosis/drug therapy/genetics/metabolism
KW - Telomere/metabolism
KW - Humans
KW - Male
KW - Middle Aged
KW - Treatment Outcome
KW - Mutation
KW - Heterozygote
KW - Telomerase/genetics
KW - Androgens/therapeutic use
KW - Anemia, Aplastic/diagnosis/drug therapy/genetics/metabolism
KW - Telomere/metabolism
M3 - SCORING: Journal article
VL - 91
SP - 1115
EP - 1120
JO - ANN HEMATOL
JF - ANN HEMATOL
SN - 0939-5555
IS - 7
M1 - 7
ER -
