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Published in: Journal of Neuro-Oncology 2/2009

01-09-2009 | Laboratory Investigation - Human-Animal Tissue

Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage

Authors: Valentina Cetica, Lorenzo Genitori, Laura Giunti, Massimiliano Sanzo, Gabriella Bernini, Maura Massimino, Iacopo Sardi

Published in: Journal of Neuro-Oncology | Issue 2/2009

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Abstract

Alkylating agents, commonly used for brain tumor therapy, induce DNA and RNA lesions that, if not repaired, drive cells to apoptosis. Thus, cellular mechanisms that are responsible for nucleic acid repair are possibly involved in drug resistance. This work analyzes hABH2 and hABH3, two human Fe(II)-dependent dioxygenases in pediatric brain tumors that are treated with alkylating agents. We analyzed 25 brain tumor samples for hABH2 and hABH3 mutations; a subset of samples was tested for quantitative expression with Real-Time PCR. Sequencing analysis showed two new mutations in two glioma patients, one of hABH2 coding sequence (I141 V) and the other of hABH3 (D189 N). The mutation at codon 189 falls in a crucial region of the protein. All subjects analyzed by Real-Time PCR showed an enhanced expression of the two genes, particularly of hABH2. This is the first study of hABH2 and hABH3 in pediatric brain tumors; further molecular investigations of their mutations and expression may help determine their role in response to chemotherapy.
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Metadata
Title
Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage
Authors
Valentina Cetica
Lorenzo Genitori
Laura Giunti
Massimiliano Sanzo
Gabriella Bernini
Maura Massimino
Iacopo Sardi
Publication date
01-09-2009
Publisher
Springer US
Published in
Journal of Neuro-Oncology / Issue 2/2009
Print ISSN: 0167-594X
Electronic ISSN: 1573-7373
DOI
https://doi.org/10.1007/s11060-009-9837-0

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