Análise da expressão gênica e conteúdo proteico de ABCB10, APEX1 e HMGB1 em pacientes com beta talassemia maior e intermediaria

Autor: Silva, João Pedro Maia de Oliveira da
Přispěvatelé: Cunha, Anderson Ferreira da
Jazyk: portugalština
Rok vydání: 2017
Předmět:
Zdroj: Repositório Institucional da UFSCAR
Universidade Federal de São Carlos (UFSCAR)
instacron:UFSCAR
Popis: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Beta thalassemias (BT) are a group of hereditary diseases characterized by the partial or total suppression of beta globin chains synthesis. Clinically, it manifests itself in three distinct forms: minor (BTm), intermedia (BTI) and major (BTM), and are differentiated by the frequency of transfusions, being the most severe form BTM. Since it is known in the literature that BT phenotype occurs independently of the genotype, a study conducted by the group, evaluated globally, genes that were differentially expressed in patients who had the same genotype, but different clinical presentation. By analyzing these results and looking for genes related to the increase of reactive oxygen species (ROS), responsible for causing cell damage and collaborating even more with the reduction of the erythrocyte lifespan observed in these patients, we identified the genes ABCB10, APEX1 and HMBG1 as differentially expressed, the former being increased in BTI patients and the latter two being increased in BTM. Peripheral blood samples extracted from a control group (n = 9), a BTI group (n = 8) and a BTM group (n = 4) were used to perform the real-time PCR experiments; for the experiments with CD34 + cells two healthy cultures and two containing the IVSI-6 mutation were used on the 7th, 10th and 13th days; A control group (n = 4), a BTI group (n = 5) and a BTM group (n = 6) were used to determine the protein content of APEX1, and a control group (n = 4) ) and a BTI group (n = 5) for the HMGB1 experiment. The data were analyzed using the GraphPad Prism 6 software and considered significant values of p
Databáze: OpenAIRE