Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents.
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.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Luciane Bitelo
LB
Ludwig
Victor Hugo
VH
Valiati
Roberta Passos
RP
Palazzo
Laura Bannach
LB
Jardim
Darlan Pase
DP
da Rosa
Silvia
S
Bona
Graziela
G
Rodrigues
Norma Possa
NP
Marroni
Daniel
D
Prá
Sharbel Weidner
SW
Maluf
D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000473:pathology; D001761:Bleomycin / Q000494:pharmacology; D002478:Cells, Cultured; D043171:Chromosomal Instability / Q000187:drug effects* / Q000235:genetics / Q000528:radiation effects*; D002869:Chromosome Aberrations / Q000187:drug effects / Q000528:radiation effects; D005260:Female; D064368:Healthy Volunteers; D006801:Humans; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress / Q000187:drug effects* / Q000235:genetics / Q000528:radiation effects*; D010375:Pedigree; D011839:Radiation, Ionizing
D001761:Bleomycin