Doutorado em Biotecnologia RENORBIO

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http://repositorio.ufes.br/handle/10/17564

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Navegando Doutorado em Biotecnologia RENORBIO por Autor "Barauna, Valério Garrone"

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    Análise funcional de nove SNPs de susceptibilidade ao câncer de ovário no locus 8q21
    (Universidade Federal do Espírito Santo, 2018-03-19) Lyra Junior, Paulo Cilas Morais; Monteiro, Álvaro; Rangel, Letícia Batista Azevedo; Daltoé, Renata Dalmaschio; Gimba, Etel Rodrigues Pereira; Guimarães, Marco César Cunegundes; Barauna, Valério Garrone
    Ovarian câncer (OC) is one of the most lethal cancer because of lack of early diagnosis. Genetic factors contributing to OC have recently been investigated through genome-wide association studies (GWAS), implicating in several independent OC risk loci in different chromosomal regions, among them the locus 8q21. Here, we performed an in-depth functional analysis of 9 SNPs causal candidates in the risk locus on 8q21 proximal to the CHMP4C gene. We first characterized the region for likely regulatory elements and genes associated, then we tested the 9 SNPs candidates for allele-specific activity in two different enhancer scanning assay, as well transcription factors associated.
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    Aspectos clínicos e genéticos em uma população de idosos portadores de alterações cognitivas
    (Universidade Federal do Espírito Santo, 2018-03-12) Magnago, Rafaella Papalino Lopes; Vieira, Fernando Luiz Herkenhoff; Silva, Ian Victor; Barauna, Valério Garrone; Guimarães, Marco Cesar Cunegundes; Campos, Luciene Cristina Gastalho
    Aging is a global phenomenon already established in North America, Europe and in steady growth in countries in economic growth such as Brazil India and China. In Brazil, the changes occur in a radical and accelerated way. Alzheimer's disease is the most prevalent type of dementia, about 60% of dementias are Alzheimer's, the development of studies seeking to elucidate its pathogenesis has gained wide attention. The present study aimed to recognize epidemiological and biological data directly linked to dementia to prospect for updated forms of diagnosis not only by clinical signs that are more accessible and less invasive to the population. A search was made in the community of the great victory, of elderly people with or without cognitive loss. The population was divided into two groups, control (GC) and case (SHAZ), according to analysis of two predictive dementia tests (MMSE and CDR). From then on, clinical data were analyzed, searching for the prevalence of chronic diseases, the lipidogram of recent examinations of the individuals, a physical examination of predictive indexes of obesity as weight, percentage of fat, BMI, perimetry, of functional capacity, together with blood collection for DNA analysis and presence of polymorphisms of the genes ApoE, ERS1 for estrogen receptor α and PON1 (rs622 and rs705379). The results suggest that chronic diseases such as dyslipidemia and hypertension are risk factors in the development of dementia as well as age. The weight and the patterns of evaluation of obesity may have relation with the pathogenesis, however in this work, its interrelation is not clear. BMI can be considered substandard to correlate with disease. Functional capacity is dependent on the cognition factor and physical activity may delay the onset of the disease. The presence of genetic factors, linked to environmental factors exist and need to be further elucidated. The ApoE E3 and E4 alleles are alleles directly related to the disease and are suggested to be age dependent and biomarkers of vulnerability. The synergism between the ApoE E4 allele with ERS1 polymorphisms (PP, pp) and PON 1 (rs622-AA1 and rs 705379-AG2 and GG2) may be suggested as biomarkers, increasing between 3.2 and 5 times the odds of its development, coexisting multiple factors that have importance in the pathogenesis of this disease more and more prevalent in the elderly population worldwide.