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BioMed Research International
Volume 2013, Article ID 762048, 7 pages
Research Article

Chromosome Instability and Oxidative Stress Markers in Patients with Ataxia Telangiectasia and Their Parents

1Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-903 Porto Alegre, RS, Brazil
2Toxicology and Molecular Biology Laboratory, Universidade do Vale do Rio dos Sinos—UNISINOS, Avenida Unisinos, 950, 93.022-000 São Leopoldo, RS, Brazil
3Experimental Hepatology Laboratory, Hospital de Clínicas de Porto Alegre—HCPA, Rua Ramiro Barcelos, 2350, 90035-903 Porto Alegre, RS, Brazil
4Oxidative Stress Laboratory, Universidade Luterana do Brasil—ULBRA, Avenida Farroupilha 8001, 92425-900 Canoas, RS, Brazil
5Graduate Course in Health Promotion, Universidade de Santa Cruz do Sul (UNISC), Avenida Independência 2293, 96815-900 Santa Cruz do Sul, RS, Brazil

Received 6 April 2013; Revised 9 June 2013; Accepted 17 June 2013

Academic Editor: Vanina Heuser

Copyright © 2013 Luciane Bitelo Ludwig et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Ataxia telangiectasia (AT) is a rare neurodegenerative disorder, inherited in an autosomal recessive manner. Total blood samples were collected from 20 patients with AT, 13 parents of patients, and 17 healthy volunteers. This study aimed at evaluating the frequency of chromosomal breaks in spontaneous cultures, induced by bleomycin and ionizing radiation, and further evaluated the rates of oxidative stress in AT patients and in their parents, compared to a control group. Three cell cultures were performed to each individual: the first culture did not receive induction to chromosomal instability, the second was exposed to bleomycin, and the last culture was exposed to ionizing radiation. To evaluate the rates of oxidative stress, the markers superoxide dismutase (SOD), catalase (CAT), and thiobarbituric acid (TBARS) were utilized. Significant differences were observed between the three kinds of culture treatments (spontaneous, bleomycin, and radiation induced) and the breaks and chromosomal aberrations in the different groups. The oxidative stress showed no significant differences between the markers. This study showed that techniques of chromosomal instability after the induction of ionizing radiation and bleomycin are efficient in the identification of syndrome patients, with the ionizing radiation being the most effective.