Programa de Pós-graduação em Genética e Biologia Molecular
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Navegando Programa de Pós-graduação em Genética e Biologia Molecular por Por Orientador "Reis, Angela Adamski da Silva"
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Item Avaliação molecular dos polimorfismos genéticos na susceptibilidade à nefropatia diabética por alterações hemodinâmicas e endoteliais(Universidade Federal de Goiás, 2018-12-19) Anjos, Laura Raniere Borges dos; Santos, Rodrigo da Silva; http://lattes.cnpq.br/4806187026900959; Reis, Angela Adamski da Silva; http://lattes.cnpq.br/3243656364470085; Cruz, Aparecido Divino da; Cruz, Aline Helena da Silva; Rocha, Thiago Lopes; Ternes, Yves Mauro FernandesDiabetic nephropathy (DN) is the major microvascular complication of Diabetes mellitus (DM) and is among the leading causes of kidney disease. This pathology is important because of glomerular changes induced by imbalance of glucose homeostasis and high intraglomerular pressure. Studies indicate that diseases are influenced not only by the environment but also by genetic factors. Among the genetic determinants, the polymorphisms in the MTHFR and VEGF genes stand out. These genes are oriented towards the synthesis of the enzyme methylenetetrahydrofolate reductase (MTHFR) and vascular endothelial growth factor (VEGF), respectively. The MTHFR enzyme plays an important role in the processing and processing cycle of methionine. VEGF is an important protein involved in signaling that stimulates vasculogenesis and angiogenesis. Thus, the objective of this study was to perform a molecular evaluation of MTHFR C677T and VEGF -141 A → C single nucleotide polymorphisms (SNPs) in diabetic patients with microvascular complications caused by hemodynamic and endothelial changes in a Brazilian population. A total of 345 were genotyped for polymorphisms using PCR-RFLP. The advanced RStúdio environment was used for statistical analysis. The logistic regression of the gene polymorphism in the MTHFR gene increases the risk (OR = 2.57, p = 0.003) of the diabetic individual developing ND. The polymorphism in VEGF gene reveals a 3.74-fold risk for DN (p = 0.001) in the eventual condition of diabetic patient. When analyzing the association of clinical variables and polymorphism in the MTHFR gene, the results showed no correlation. The association of clinical variables with the VEGF gene polymorphism, the results indicated the same in creatinine, in GFR and in diastolic blood pressure. Clinical associations observe a mechanism underlying the role of polymorphisms in renal dysfunction. Results suggest that polymorphisms MTHFR gene confer susceptibility to ND in the patients with DM.Item Variantes polimórficas em genes de detoxificação celular e suas relações com o desenvolvimento da esclerose lateral amiotrófica(Universidade Federal de Goiás, 2020-03-05) Santos, Kamilla de Faria; Santos, Rodrigo da Silva; http://lattes.cnpq.br/4806187026900959; Reis, Angela Adamski da Silva; http://lattes.cnpq.br/3243656364470085; Reis, Angela Adamski da Silva; Bailão, Alexandre Melo; Souza, Guilherme Rocha Lino deAmyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease caused by the degeneration of motor neurons, leading to progressive muscular atrophy. Studies suggest the relationship of the disease with environmental and genetic factors, and the involvement of mechanisms, such as oxidative stress, with neuronal degeneration. However, the body has several ways to promote cellular detoxification against harmful compounds. The Glutathione S-transferase (GST) family consists of multifunctional enzymes that act on cell detoxification and elimination of various substances, including oxidative stress products. Among the human cytosolic classes of the GST family, two isoenzymes are highlighted: GSTM1 and GSTT1, both encoded by genes of the same name, these genes have a total deletion polymorphism that results in the absence of enzymatic activity. Therefore, the objective of the present study was to evaluate the deletion polymorphisms in GSTM1 and GSTT1 genes and their association with the risk of developing ALS. A case-control study was conducted, including 101 patients diagnosed with ALS and 119 individuals without diagnosis of neurodegenerative diseases. Peripheral blood samples were collected from both groups and subjected to DNA extraction and subsequent genotyping. The polymorphisms were genotyped by the multiplex real - time PCR (qPCR) technique, with the definition of the null and present genotypes by analysis of the melting curves produced after the amplification. Clinical and demographic data were collected from medical records and questionnaires, including topics such as cigarette use, alcohol intake, age of diagnosis, physical activity practice, occupational history, among others. Among the groups analyzed, alcohol consumption was predominant in patients with ALS, with a significant difference between the case and control groups (p=0.01). However, there was no association of GSTM1 (p=0.85), GSTT1 (p=0.90) deletion polymorphisms and their possible genotypic combinations with the risk of developing ALS. The relationship of polymorphisms with the clinical and demographic profile of patients with the disease was also performed. In this analysis, there was a significant difference in the GSTM1-present genotype with the variables: environmental exposure and smoking (p = 0.02 and 0.03, respectively), in the GSTT1-present genotype with a history of neurodegenerative disease in the family (p=0.01), while the double genotype present also showed a significant difference with the family history of neurodegenerative disease (p=0.02). In this context, the results found in this study demonstrate the non-association of GSTM1 and GSTT1 deletion polymorphisms with the development of ALS.