Doutorado em Biotecnologia
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Navegando Doutorado em Biotecnologia por Autor "Batitucci, Maria do Carmo Pimentel"
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- ItemAspectos genéticos e terapêuticos da osteogênese imperfeita(Universidade Federal do Espírito Santo, 2017-12-20) Moraes, Marcos Vinícius Dornelas de; Paula, Flavia de; Louro, Iúri Drumond; Guimarães, Marco Cesar Cunegundes; Batitucci, Maria do Carmo Pimentel; Lenz, DominikOsteogenesis imperfecta (OI) is a genetically heterogeneous hereditary disorder with an incidence of 1 in every 10-20,000 individuals born. It is characterized by deformities in connective tissue and bone fragility, which makes the individual with OI more susceptible to fractures, due to minimal trauma or non-traumatic impacts. In most cases the disease is inherited in an autosomal dominant (AD) form due to a mutation in heterozygosity in the COL1A1 or COL1A2 genes, which encode the collagen α1(I) and α2(I) chains of the collagen type I, one of the most important structural proteins of bones, skin and tendons. However, the number of reports of autosomal recessive mutations (RA) in new genes is increasing, and mutations in 14 genes directly related to the clinical expression of OI, including CRTAP, P3H1, PPIB, SERPINF1, SERPINH1, FKBP10, SP7 and WNT1, focus of this work. The use of bisphosphonates by intravenous administration has been the standard treatment in OI. The main benefits are the reduction of the number of fractures, increase of bone mass and reduction of chronic pain, which contributes to the control of the progression of the disease a significant improvement in the patients' quality of life.
- ItemBiomarcadores de diagnóstico complementar na Doença de Alzheimer : enfoque em genes que participam da formação da placa beta-amiloide, via do folato e geração de estresse oxidativo(Universidade Federal do Espírito Santo, 2018-06-06) Camporez, Daniela; Batitucci, Maria do Carmo Pimentel; Paula, Flavia de; Zeidler, Sandra Ventorin von; Govêa, Sônia Alves; Morelato, Renato Lirio; Errera, Flavia ImbrosiAlzheimer Disease (AD) is the most common type of dementia related to aging. It is a serious, chronic and progressive pathology, associated with memory and cognition loss, that leads to death. The mayor risk factor for this disease development is the advanced age, that with a complex interaction of environmental and genetic factors all together can increase the incidence of the disease. Even though its cause is still unknown, the genetic factors and the oxidative stress play an important role in the AD pathogenesis. In this association study we have investigated if polymorphisms in the genes APOE (rs429358 and rs7412 FOXO (rs2802292) MTHFD1L (rs11754661) SERPINA3 (rs4934) SIRT1 (rs2273773) and SOD2 (rs4880) and environmental factors such as: educational level, ethnicity and sex are associated with risk to the AD, in a sample of 332 old individuals from the southest in Brazil (109 individuals with a probably diagnosis of AD and 223 controls – healthy old individuals, paired by age and sex. The genetic polymorphisms were analized through the real time polymerase chain reaction (RT-PCR). In our sample the gene polymorfism APOE showed to be highly associated with the disease, both the genotypes ɛ4ɛ4 and ɛ3ɛ3 proved to be a factor of risk and protection respectively. The GG genotype of the MTHFD1L gene has been shown to be associated with an increased risk of developing Alzheimer's disease. As the genotype GG and AG of the SERPINA3 gene were shown to be protection and risk factors, respectively. The TT and CT genotypes of the SIRT1 gene also showed a correlation with the disease. The educational level showed to be positively associated with the control group individuals, who had a formal education for more than four years. FOXO3 and SOD2 did not prove to be statistically associated with the sample and the disease in question. Our results corroborate other studies demonstrating that the etiology of AD may be involved with the folate pathway, with increased oxidative stress in cells of the central nervous system and supports the participation of beta-amyloid plaque forming proteins in the pathology of AD. These results can be useful in the research of genetic biomarkers to identify individual symptoms before the dementia appears and to offer new data for theraphy in the future, helping in the understanding of this disorder and how to respond to it. These results may be useful in the search for early genetic biomarkers capable of identifying the onset of dementia, and provide new data for therapies in the future, helping to understand this disorder. In addition, they reinforce the hypothesis that several genes are involved in the etiology of AD, a condition characterized by high genomic instability and oxidative stress, which may contribute significantly to the degeneration observed in patients.
- ItemEstudo genético e de instabilidade genômica da doença Alzheimer em pacientes de Vitória-ES(Universidade Federal do Espírito Santo, 2014-02-20) Belcavello, Luciano; Batitucci, Maria do Carmo Pimentel; Paula, Flavia de; Oliveira, João Ricardo Mendes de; Nogueira, Breno Valentim; Morelato, Renato Lirio; Santos, Eldamária de Vargas Wolfgramm dosabstract
- ItemInvestigação de mutações nos genes LEPRE1, CRTAP, PPIB, FKBP10, SERPINH1 e SERPINF1 causadoras da osteogênese imperfeita recessiva(Universidade Federal do Espírito Santo, 2015-02-13) Furtado, Clara Fernanda Barbirato; Paula, Flávia de; Cordeiro-Silva, Melissa de Freitas; Conforti, Adriana Madeira Álvares da Silva; Carvalho, Elizeu Fagundes de; Batitucci, Maria do Carmo PimentelOsteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous disease predominantly characterized by bone fragility and deformity and recurrent fractures. Most cases of OI result of autosomal dominant mutations in COL1A1 and COL1A2 genes that encode the chains forming type I collagen, the main protein in bones. In the past few years, an increasing number of cases due to recessive mutations has been reported in genes associated with the biosynthesis of type I collagen or to the formation and bone mineralization, such as LEPRE1, CRTAP, PPIB, FKBP10, SERPINH1 and SERPINF1. Mutations in these genes, in general, lead to the development of severe and lethal OI phenotypes. In this work, LEPRE1, CRTAP, PPIB, FKBP10, SERPINH1 and SERPINF1 of 25 OI patients were analyzed using SSCP and automated sequencing. Altogether, 29 genetic variations were detected, mutations and polymorphisms. Among the eleven variants found in LEPRE1 gene, there are the already well described c.1080 + 1G> T and the potentially deleterious mutations c.2024G> A / p.Lys363Glu and c.1501C> T / p.Arg501Trp . In FKBP10 gene, the previously described duplication c.831dupC, and c.1546G>A / p.Leu516Phe, predicted to be disease causing, were detected. It was observed that FKBP10 and LEPRE1 contain the most important mutations found in the patients studied in this work and it is suggested that LEPRE1 and FKBP10 should be preferably analyzed in studies of screening and identification of mutations in patients with OI. To date, there are no reports of mutations in LEPRE1, CRTAP, PPIB, FKBP10, SERPINH1 and SERPINF1 genes in Brazilian patients and this study provides new information on the genetic aspects of recessive OI.
- ItemPoliformismos nos genes TCF7L2 e ADIPOQ e sua associação com obesidade e diabetes em adolescentes da Grande Vitória(Universidade Federal do Espírito Santo, 2016-08-30) Costa, Josivany Valério de Freitas; Errera, Flavia Imbroisi Valle; Paula, Flavia de; Maranduba, Carlos Magno da Costa; Bem, Daniela Amorim Melgaço Guimarães do; Batitucci, Maria do Carmo Pimentel; Zeidler, Sandra Ventorin vonabstract