| Autor: |
Khanna-Gupta, Arati, Sarvepalli, Durga, Majumder, Snigdha, Karunakaran, Coral, Manoharan, Malini, Prabhu, Shilpa, Bafna, Varun, Murugan SM, Sakthivel, Bose, Chirantan, Gupta, Ravi, KS, Nataraj, Damodar, Sharat, Ghosh, Arkasubhra |
| Zdroj: |
Blood; January 2016, Vol. 128 Issue: 22 p1502-1502, 1p |
| Abstrakt: |
Acquired Aplastic anemia (AA) is a bone marrow failure syndrome characterized by pancytopenia and marrow hypoplasia, and is mediated by immune destruction of hematopoietic stem cells. Mutations in several genes including telomerase, a ribonucleoprotein enzyme complex, consisting of a reverse transcriptase enzyme (TERT), an RNA template (TERC), and several stabilizing proteins, and the associated shelterin complexes have been found in both congenital and idiopathic AA. In particular, several TERTand TERC mutations reduce telomerase activity in vitroand accelerate telomere attrition in vivo. Shortened telomeres have been observed in a third of idiopathic AA patients, but only 10% of these patients have mutations in genes of the telomerase complex. We have recently demonstrated that in addition to keeping telomeres from shortening, telomerase directly regulates transcriptional programs of developmentally relevant genes (Ghosh et al, Nat Cell Biol, 2012, 14, 1270). We postulate that changes in expression of telomerase associated genes, specifically TERT, contribute to the etiology of aplastic anemia. |
| Databáze: |
Supplemental Index |
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