RESUMEN
Single nucleotide polymorphisms (SNPs) that do not change the composition of amino acids and cause synonymous mutations (sSNPs) were previously considered to lack any functional roles. However, sSNPs have recently been shown to interfere with protein expression owing to a myriad of factors related to the regulation of transcription, mRNA stability, and protein translation processes. In patients with Chagas disease, the presence of the synonymous mutation rs1129293 in phosphatidylinositol-4,5-bisphosphate 3-kinase gamma (PIK3CG) gene contributes to the development of the chronic Chagas cardiomyopathy (CCC), instead of the digestive or asymptomatic forms. In this study, we aimed to investigate whether rs1129293 is associated with the transcription of PIK3CG mRNA and its activity by quantifying AKT phosphorylation in the heart samples of 26 chagasic patients with CCC. Our results showed an association between rs1129293 and decreased PIK3CG mRNA expression levels in the cardiac tissues of patients with CCC. The phosphorylation levels of AKT, the protein target of PI3K, were also reduced in patients with this mutation, but were not correlated with PI3KCG mRNA expression levels. Moreover, bioinformatics analysis showed that rs1129293 and other SNPs in linkage disequilibrium (LD) were associated with the transcriptional regulatory elements, post-transcriptional modifications, and cell-specific splicing expression of PIK3CG mRNA. Therefore, our data demonstrates that the synonymous SNP rs1129293 is capable of affecting the PIK3CG mRNA expression and PI3Kγ activation.
Asunto(s)
Cardiomiopatía Chagásica , Cardiomiopatía Chagásica/genética , Fosfatidilinositol 3-Quinasa Clase Ib/genética , Humanos , Fosfatidilinositol 3-Quinasas , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas c-akt , ARN Mensajero/genética , ARN Mensajero/metabolismo , Mutación SilenciosaRESUMEN
O consumo de carnes é amplamente apreciado devido a qualidades organolépticas e nutricionais, em especial a carne de peixe ganha grande destaque por ser uma carne com elevada quantidade e qualidade de proteínas, baixos níveis de colesterol e fonte de ácidos graxos. A frequência de sua ingestão e o conhecimento referente à importância de sua inclusão na dieta foram avaliados em universitários do município de Lavras. Onde a carne de peixe é consumida por estudantes entre 21-30 anos, com nível de escolaridade superior incompleto e renda mensal de 1-2 salários mínimos, em uma frequência abaixo do recomendado para este consumo. O sabor é o principal motivo para escolha, adquirida em supermercados, escolhida de acordo com a espécie, com ampla preferência pelo peixe fresco, e consumida a domicílio de modo frito. Grande parte acredita que o consumo de carne possa interferir na saúde. A presença de ácidos graxos essenciais foi o principal benefício para a saúde citado diante do consumo da carne de peixe. Ainda, o consumo de carne bovina foi significativamente associado ao fator idade, onde 93,3% dos indivíduos até 20 anos declararam consumo frequente. Não houve diferença significativa (p>0,05) entre o tipo de carne consumido, variáveis socioeconômicas, visão do consumidor relacionada à saúde e benefícios associados aos diferentes tipos de carne(AU)
Meat consumption is greatly appreciated because of its flavor and nutritional qualities, in particular the fish meat have many important for your quantity and quality of protein, low cholesterol levels and source of fatty acids. The frequency of its intake and the knowledge regarding the importance of its inclusion in the diet were evaluated in academics in the city of Lavras. In both fish meat is consumed by students between 21-30 years old, with incomplete upper level of education and monthly income of 1-2 minimum wages, in frequency below expectations. Flavor is the main reason for choice, acquired in supermarkets, chosen according to species, wide preference for fresh fish, and consumed at home in the fried way. Most believe that eating meat may interfere with health. The presence of essential fatty acids was the main health benefit cited in the consumption of fish meat. Beef consumption was significantly associated with the age factor, where 93.3% of individuals up to 20 years declared frequent consumption. There was no significant difference between the type of meat consumed, socioeconomic variables, healthrelated consumer view, and benefits associated with different types of meat(AU)