Avaliação da expressão do gene PTEN em pacientes talassêmicos dependentes e não dependentes de transfusão

• Ano de defesa: 2024
• Autor(a) principal: Silva, João Pedro Maia de Oliveira da
• Orientador(a): Cunha, Anderson Ferreira da
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Carlos; Câmpus São Carlos
• Programa de Pós-Graduação: Programa de Pós-Graduação em Genética Evolutiva e Biologia Molecular - PPGGEv
• Palavras-chave em Português: Beta talassemia; PTEN; Antioxidantes; Estresse oxidativo
• Área do conhecimento CNPq: CIENCIAS BIOLOGICAS::BIOQUIMICA::BIOLOGIA MOLECULAR; CIENCIAS BIOLOGICAS::GENETICA
• Link de acesso: https://repositorio.ufscar.br/handle/20.500.14289/21331

The exacerbated production of Reactive Oxygen Species (ROS) in beta-thalassemia causes significant damage to erythrocytes and is closely associated with the pathophysiology of the disease. In this context, the action of the antioxidant defense system is vital for the maintenance and survival of erythrocytes. A work carried out by our research group pointed out important differences in the production of the enzymatic antioxidant proteins PRDX1 and PRDX2 between healthy individuals, and patients with beta-thalassemia no transfusion dependent (BTNTD) and transfusion dependent (BTTD). However, complementary studies that seek to elucidate metabolic pathways and molecular mechanisms involved in regulating these enzymes are necessary. In this sense, the PTEN enzyme stands out as an interesting target, since literature data shows that it can respond to oxidative stress by associating with the PRDX1 protein. Furthermore, PTEN, in tumors, was associated with the expression of other antioxidant proteins such as PRDX1 and 2 and SOD1, however, this relationship has not yet been investigated in beta-thalassemia. Our analyses of PTEN in BTNTD patients demonstrated an increase in its gene expression in relation to the control group, while in relation to BTTD patients we observed a possible correlation of its expression with the patients' HbA/HbF levels. We also observed an increase in PI3K expression in BTNTD patients and also in the BTTD group associated with higher HbF levels. Regarding protein levels, we observed a significant reduction of PTEN in BTTD patients compared to healthy individuals and BTNTD patients. Our results require further study, however, the results found suggest an important role for this gene in modulating the disease.