Relación entre las mutaciones frecuentes del gen de la globina beta y el balance redox

HARO C; LAZARTE S; LEDESMA ACHEM E; ISSÉ B; TERAN M; MÓNACO ME

San Miguel de Tucuman

Jornada; XXXIV Jornadas Científicas de la Asociación de Biología de Tucumán; 2017

Asociacion de Biologia de Tucuman

Oxidative damage plays a crucial role in the pathophysiology of anemia in patients with beta thalassemic trait (RBT). Objectives: To evaluate the influence of oxidative stress and cytoprotective gene expression in relation to frequent mutations present in RBT individuals. Methodology: We analyzed 85 individuals with RBT and 95 normal at the Institute of Applied Biochemistry of the UNT during the period September 2013 to July 2017. The molecular characterization of RBT involved the detection of the following mutations: Cd39, IVSI-1, IVISI -110 and IVISI-6. Systemic catalase (Göth technique), reactive thiobarbituric acid species (TBARS) (Beuge and Aust technique) and gene expression of cytoprotective enzymes catalase (CAT) and superoxide dismutase (SOD) were evaluated by RetroTranscription-PCR time real. Results: The most frequent mutations detected were Cd39 and IVSI-1 (27% and 33%, respectively). The IVSI-110 and IVSI-1 groups showed significantly higher levels of systemic catalase than the control group (catalysis MU / L: IVSI-110 = 108 ± 39, IVSI-1 = 116 ± 44, control = 93 ± 22). Lipid peroxidation and expression levels of CAT and SOD were similar in all groups evaluated. Conclusion: The results suggest a different behavior of the redox balance in the groups that presented the IVSI-110 and IVSI-1 mutations, evidenced by the higher levels of systemic catalase detected. Equally, the slight variations observed in the expression of the cytoprotective enzymes constitute a promising preliminary finding to continue the study of oxidative stress in this pathology.