26 research outputs found

    Period3: um gene relacionado com a sincronização de ritmos circadianos pela luz

    Get PDF
    Period3 (Per3) is a clock gene that participates in the temporal mechanism in mammals. Papers have been published showing some conflicting results related with the function of this gene, which has not been completely established. In humans, Per3 gene contains a length polymorphism which is associated with homeostatic and circadian parameters of sleep. Some studies speculate on the function of this gene and its polymorphism in the sensitivity of light and recently, rather interesting data have been presented in the literature. These studies can help to improve the treatment of rhythms disorders and help to attenuate symptoms related with jet lag and shift workO gene Period 3 (Per3) faz parte do mecanismo de temporização dos mamíferos. Os trabalhos publicados na literatura até hoje mostram alguns resultados conflitantes em relação à função deste gene, que ainda não está totalmente esclarecida. Em humanos, o gene Per3 possui um polimorfismo de repetição provavelmente associado com mecanismos homeostáticos e circadianos do sono. Alguns estudos especulam sobre o papel deste gene e de seu polimorfismo em relação a sensibilidade à luz e já foram publicados resultados bem interessantes. Estes estudos podem trazer grandes impactos terapêuticos, ajudando no tratamento de distúrbios dos ritmos biológicos, na redução de sintomas relacionados a jet lag e a trabalhos em turn

    Rastreamento de polimorfismos no gene HIOMT e associações com os fenótipos circadianos

    Get PDF
    HIOMT is a gene that encodes hydroxyindole-O-methyltransferase,\ud the final enzyme in the melatonin synthesis pathway. As the\ud timing of melatonin synthesis is different for morning and evening\ud people, it is possible that polymorphisms in genes coding for the\ud enzymes which participate in melatonin synthesis can influence this\ud hormone synthesis and release patterns that may result in different\ud circadian outputs. The aim of this study was to search for polymorphisms\ud in the HIOMT gene and to verify possible associations\ud between genetic variations in this gene and circadian phenotypes\ud in a Brazilian population sample. Among the 44 extreme morning\ud and the 48 extreme evening people, ten polymorphisms were found,\ud being two of them not described so far. Haploview analyses\ud showed linkage disequilibrium between pairs of polymorphisms\ud in the promoter B region. Also, the haplotype AG (rs4446909,\ud rs5989681) is associated with evening preference. The analysis\ud of these data indicates that polymorphisms in the HIOMT gene\ud exhibit a possible trend to influence circadian phenotypes in this\ud Brazilian population sample, possibly affecting the rate and/or level\ud of melatonin synthesisO HIOMT é um gene que codifica para a hidroxindole-O-metiltransferase,\ud a enzima final na via de síntese da melatonina. Uma\ud vez que a temporização da síntese de melatonina é diferente para\ud pessoas matutinas e vespertinas, é possível que polimorfismos nos\ud genes codificantes para as enzimas que participam da síntese da melatonina\ud possam influenciar os padrões de síntese e liberação deste\ud hormônio, resultando em diferentes respostas circadianas. O objetivo\ud deste estudo foi buscar por polimorfismos no gene HIOMT\ud e verificar a existência de possíveis associações entre as variações\ud genéticas neste gene e os fenótipos circadianos em uma amostra da\ud população brasileira. Entre os 44 indivíduos matutinos extremos e\ud os 48 vespertinos extremos, dez polimorfismos foram encontrados,\ud sendo dois deles ainda não descritos até o momento. Análises do\ud Haploview mostraram um desequilíbrio de ligação entre pares de\ud polimorfismos na região do promotor B. Ainda, o haplótipo AG\ud (rs4446909, rs5989681) está associado com a preferência vespertina. A análise destes dados indica que polimorfismos no gene HIOMT\ud exibem uma tendência na influência sobre os fenótipos circadianos\ud na amostra da população brasileira investigada, podendo afetar a\ud taxa e/ou o nível da síntese de melatoninaThis research was funded by Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP), Centros de Pesquisa, Inovação e Difusão (CEPID), Grant # 1998/14303-3, and Associação Fundo de Incentivo à Psicofarmacologia (AFIP

    PERFIL CLÍNICO EPIDEMIOLÓGICO DOS PACIENTES COM AIDS ATENDIDOS NO SERVIÇO DE ASSISTÊNCIA ESPECIALIZADA EM ANÁPOLIS-GO NOS ANOS DE 2009 A 2013 CLINICAL EPIDEMIOLOGICAL PROFILE OF AIDS PATIENTS ATTENDED AT THE SPECIALIZED CARE SERVICES IN ANÁPOLIS-GO IN THE

    Get PDF
    Objetivo: caracterizar o perfil clínico epidemiológico dos pacientes com AIDS atendidos no Serviço de Assistência Especializado (SAE) em Anápolis no período de janeiro de 2009 a dezembro de 2013. Métodos: Este estudo foi do tipo observacional, descritivo e retrospectivo de base populacional. Este estudo foi pautado na abordagem quantitativa de 168 prontuários de pacientes com AIDS em Anápolis no período de janeiro 2009 a dezembro de 2013 que foi realizado no Serviço de Assistência Especializado (SAE). Resultados: Entre os 168 sujeitos analisados entre os anos estudados, 67,8% eram do gênero masculino e 32,2% do gênero feminino. Em relação ao estado civil foram observados 56,6% solteiros; 25,6% casados; 7,1% viúvos; 5,9% divorciados e 4,8% não responderam. Em relação à orientação sexual foram observados 61,3% heterossexuais; 24,5% homossexuais; 7,1% bissexuais e 7,1% não responderam; já ao modo de exposição ao HIV foram avaliados que 61,3% adquiriram os vírus por prática sexuais; um único paciente (0,6%) relatou ser por transfusão sanguínea e 38,1% não responderam a forma como contraíram o vírus. Sobre o uso de drogas ilícitas 34,5% disseram não utilizar e 14,9% relataram o uso de drogas ilícitas e 50% não tinha essa informação no prontuário; em relação à presença de doenças oportunistas 58,9% apresentaram algum tipo de doenças oportunistas e 14,3% não apresentaram. Conclusão: De acordo com os dados analisados houve um aumento de 59% na procura pelo atendimento no tratamento da AIDS sendo que em 2009 foram atendidos 20 pacientes e em 2013 foram atendidos 49 pacientes

    Interactions of polymorphisms in different clock genes associated with circadian phenotypes in humans

    Get PDF
    Several studies have shown that mutations and polymorphisms in clock genes are associated with abnormal circadian parameters in humans and also with more subtle non-pathological phenotypes like chronotypes. However, there have been conflicting results, and none of these studies analyzed the combined effects of more than one clock gene. Up to date, association studies in humans have focused on the analysis of only one clock gene per study. Since these genes encode proteins that physically interact with each other, combinations of polymorphisms in different clock genes could have a synergistic or an inhibitory effect upon circadian phenotypes. In the present study, we analyzed the combined effects of four polymorphisms in four clock genes (Per2, Per3, Clock and Bmal1) in people with extreme diurnal preferences (morning or evening). We found that a specific combination of polymorphisms in these genes is more frequent in people who have a morning preference for activity and there is a different combination in individuals with an evening preference for activity. Taken together, these results show that it is possible to detect clock gene interactions associated with human circadian phenotypes and bring an innovative idea of building a clock gene variation map that may be applied to human circadian biology

    Study of association between PER3 gene and circadian rhythms synchronization to light/dark]

    Get PDF
    Per3 gene is a component of the circadian molecular mechanism. Its function is not completely understood. One of the hypotheses is that Per3 gene may be involved in light synchronization mechanism. The aim of this project was investigate the association between Per3 gene and circadian rhythmicity dependent of the photophase duration in different light/dark cycle regimens. The experimental protocol was divided in two parts: 1. We investigated the possible mechanisms of association between Per3 gene and adaptation/duration of the photophase in Per3-/- mice by exposing the animals to different light/dark cycles with long or short photophases 2. Based on the results of experiment 1, we developed an experiment in humans in order to investigate if the results in mice were someway applicable to our population. Subjects from two locations with different latitudes were selected (Natal and São Paulo) and the experiment was carried out in two different seasons of the year to mimic photophase variation. The first part of our results suggested that Per3 gene is associated with sensitivity of masking by light. In the second part of the study, we found a phase delay in the circadian parameters analyzed (beginning and end of activity, markers of activity (M10) and temperature (M6)) in the PER35/5 group from Natal on November, when compared to the São Paulo group. Our data in mice point out a new hypothesis related to masking effect that may contribute to the understanding of Per3 gene function in the regulation of circadian rhythms and the human data show that it is possible to associate Per3 gene with the phase adjustments derived from specific characteristics of light/dark cycle in different latitudes.O gene Per3 está envolvido na regulação de mecanismos de temporização circadiana. Sua real função ainda não está totalmente elucidada. Algumas hipóteses atuais nos levam a crer que este gene tenha algum papel no mecanismo de sincronização ao estímulo luminoso em ciclos claro/escuro. O principal objetivo deste trabalho foi investigar as possíveis associações entre o gene Per3 e a regulação da ritmicidade circadiana dependente da duração da fotofase. A parte experimental foi dividida em duas etapas: 1. Trabalhamos com camundongos knockout para o gene (Per3-/-) e avaliamos os possíveis mecanismos pelos quais o gene poderia estar envolvido na adaptação e duração da fotofase, expondo esses animais a regimes de claro/escuro diferenciados de forma que houvesse fotofases muito curtas ou longas. 2. Foi feito um experimento em humanos, em duas localidades (Natal e São Paulo) situadas em diferentes latitudes (05°47’S e 23°32’S, respectivamente). O protocolo experimental foi realizado em estações do ano diferentes de forma que pudéssemos mimetizar a variação de fotofase usada em condições laboratoriais. O experimento em humanos foi feito com o intuito de verificar se as inferências feitas a partir do modelo animal eram de alguma forma aplicáveis. Sugerimos a partir dos resultados obtidos na primeira fase do estudo que os animais Per3-/- sejam menos sensíveis ao mascaramento à luz e os resultados da segunda etapa mostram, um atraso nas fases das variáveis circadianas analisadas (início e final da atividade, meia fase de M10 da atividade e meia fase de M6 da temperatura) em Natal, principalmente no grupo de indivíduos do genótipo PER35/5 durante o mês de novembro. De maneira geral, os dados nos camundongos apontam um caminho relacionado com estudos de mascaramento à luz para elucidação da função do gene e os dados em humanos mostram que é possível associá-lo aos ajustes de fase derivados de características específicas do ciclo claro/escuro dados por diferentes latitudes.TEDEBV UNIFESP: Teses e dissertaçõe

    PERFIL CLÍNICO EPIDEMIOLÓGICO DOS PACIENTES COM AIDS ATENDIDOS NO SERVIÇO DE ASSISTÊNCIA ESPECIALIZADA EM ANÁPOLIS-GO NOS ANOS DE 2009 A 2013

    No full text
    Objective: To characterize the clinical epidemiological profile of AIDS patients treated at the Specialized Care Service (SAE) in Annapolis in January 2009 to December 2013. Methods: This study was observational, descriptive and retrospective population-based. This study was guided by the quantitative approach of 168 records of patients with AIDS in Annapolis in January 2009 to December 2013 which was held at the Specialized Care Service (SAE). Results: Among the 168 subjects analyzed in the years studied, 67.8% were male and 32.2% female. In relation to marital status were observed 56.6% were single; 25.6% married; 7.1% widowers; 5.9% divorced and 4.8% did not answer. In relation to sexual orientation were observed 61.3% heterosexual; 24.5% homosexual; 7.1% bisexual and 7.1% did not answer; Already the exposure mode to HIV were evaluated which 61.3% acquired the virus through sexual practice; one patient (0.6%) reported being by blood transfusion and 38.1% did not answer how contracted the virus. About the use of illicit drugs 34.5% said they did not use and 14.9% reported using illicit drugs and 50% had no such information in the medical record; Regarding the presence of opportunistic diseases 58.9% had some kind of opportunistic diseases and 14.3% did not. Conclusion: According to the data analyzed there was a 59% increase in demand for care in the treatment of AIDS and in 2009 were attended to 20 patients in 2013 and were treated 49 patient

    Rastreamento de polimorfsmos no gene HIOMT e associações com os fenótipos circadianos

    No full text
    HIOMT is a gene that encodes hydroxyindole-O-methyltransfe-rase, the final enzyme in the melatonin synthesis pathway. As the timing of melatonin synthesis is different for morning and evening people, it is possible that polymorphisms in genes coding for the enzymes which participate in melatonin synthesis can influence this hormone synthesis and release patterns that may result in different circadian outputs. The aim of this study was to search for polymorphisms in the HIOMT gene and to verify possible associations between genetic variations in this gene and circadian phenotypes in a Brazilian population sample. Among the 44 extreme morning and the 48 extreme evening people, ten polymorphisms were found, being two of them not described so far. Haploview analyses showed linkage disequilibrium between pairs of polymorphisms in the promoter B region. Also, the haplotype AG (rs4446909, rs5989681) is associated with evening preference. The analysis of these data indicates that polymorphisms in the HIOMT gene exhibit a possible trend to influence circadian phenotypes in this Brazilian population sample, possibly affecting the rate and/or level of melatonin synthesis

    The G619A Aa-nat gene polymorphism does not contribute to sleep time variation in the brazilian population

    No full text
    Genes involved in melatonin synthesis, such as Aa-nat, may be important for our understanding of diurnal preference and circadian rhythm disturbances in humans. in Japan, Hohjoh et al. reported increased allelic frequencies of the 619A allele of the G619A Aa-nat gene polymorphism in a sample of Delayed Sleep Phase Syndrome (DSPS) patients. the present study sought to analyze G619A polymorphism frequency in a Brazilian sample, including DSPS patients. We found almost no allelic variation for G619A polymorphism in our sample, except for two heterozygous samples out of 551. Our results leave open the question of whether there would be an association if there were some genetic variation in our population. It is important to analyze different ethnic groups in order to validate the effect of G619A polymorphism on sleep timing.Universidade Federal de São Paulo, Dept Psychobiol, Sleep Inst, BR-04024002 São Paulo, BrazilUniv Fed Parana, Dept Physiol, BR-80060000 Curitiba, Parana, BrazilUniversidade Federal de São Paulo, Dept Psychobiol, Sleep Inst, BR-04024002 São Paulo, BrazilWeb of Scienc
    corecore