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Id: biblio-1132744
Autor: Reis, Giselle Emilãine da Silva; Calixto, Robson Diego; Petinati, Maria Fernanda Pivetta; Souza, Juliana Feltrin de; Kuchler, Erika Calvano; Costa, Delson João da; Bonotto, Daniel; Rebellato, Nelson Luis Barbosa; Scariot, Rafaela.
Título: Effect of different factors on patient perception of surgical discomfort in third molar surgery
Fonte: Braz. oral res. (Online);35:e007, 2021. tab, graf.
Idioma: en.
Projeto: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil (CAPES).
Resumo: Abstract: The aim of this study was to evaluate patient perception of surgical discomfort in third molar surgery and the association with clinical variables and polymorphisms associated with the FKBP5, SLC6A4, and COMT genes. This cross-sectional observational study was carried out on 196 participants aged between 18 and 64 years at the Federal University of Paraná in 11 months. The intensity of surgical discomfort was assessed using the QCirDental questionnaire. Data on surgical and individual procedures were also cataloged. The oral health related quality of life was assessed by the Oral Health Impact Profile questionnaire (OHIP-14). The DNA sample was obtained from cells of the oral mucosa. Five markers of the FKBP5, SLC6A4, and COMT genes were genotyped. The data were submitted to statistical analysis with a significance level of 5%. Women reported greater intensity of discomfort associated with third molar surgery compared to men (p = 0.001). In the recessive model, the AA genotype of the rs3800373 marker was associated with greater surgical discomfort (p = 0.026). Therefore, women and individuals of the AA genotype for the rs3800373 marker in the FKBP5 gene reported greater surgical discomfort associated with third molar surgery.
Descritores: Qualidade de Vida
Dente Serotino/cirurgia
-Percepção
Extração Dentária
Estudos Transversais
Proteínas da Membrana Plasmática de Transporte de Serotonina
Limites: Humanos
Masculino
Feminino
Lactente
Pré-Escolar
Responsável: BR1.1 - BIREME


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Id: lil-715181
Autor: Moya V, Pablo.
Título: Mini-revisión: Variantes genéticas del transportador de serotonina en trastornos neuropsiquiátricos / Serotonin Transporter gene variants in neuropsychiatric disorders
Fonte: Rev. chil. neuro-psiquiatr;52(2):115-122, jun. 2014. ilus.
Idioma: es.
Resumo: The SLC6A4 gene encodes the serotonin transporter SERT. Since the discovery of the role of SLC6A4 polymorphisms on human behavior, there is an increasingly growing wealth of information regarding SLC6A4 gene variants associated with anxiety and mood disorders, as well as their pharmacogenetic implications. In this brief review, the main discoveries on SLC6A4 variants, their functional impact and their suggested roles in neuropsychiatric and neurodevelopmental disorders are discussed.

El gen SLC6A4 codifica el transportador de serotonina SERT. Desde el descubrimiento inicial del rol que tienen polimorfismos de SLC6A4 en el comportamiento humano, hay una creciente cantidad de información acerca de variantes genéticas de SLC6A4 asociadas con trastornos de ansiedad y de estado de ánimo, así como de sus implicancias farmacogenéticas. En esta breve revisión, se discuten los principales descubrimientos de variantes de SLC6A4, su impacto funcional y sus roles sugeridos en enfermedades neuropsiquiátricas y de neurodesarrollo.
Descritores: Serotonina
Proteínas da Membrana Plasmática de Transporte de Serotonina
Doenças do Sistema Nervoso
Limites: Humanos
Responsável: CL58.1 - Biblioteca


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Id: biblio-1023455
Autor: Bassi, Sabrina; Costa, Lucas; Lesik, Laura; Faccioli, José Luis; Finkelssztein, Carlos; Cajal, Andrea.
Título: Interaction between polymorphisms in SLC6A4 and BDNF on major depressive disorder in a sample of the argentinean population / Interacción entre polimorfismos en SLC6A4 y BDNF en el trastorno depresivo mayor en una muestra de la población argentina
Fonte: Rev. Hosp. Ital. B. Aires (2004);38(1):5-10, mar. 2018. tab..
Idioma: en.
Resumo: The dysfunction in the serotoninergic neurotransmission has been classically associated with major depressive disorder (MDD); however, other pathways and processes seem to have a role in this illness, such as neurogenesis and related molecules: the Brain-Derived Neurotrophic Factor (BDNF) and the Apolipoprotein E (APOE). There are many reports that indicate an association between certain polymorphism in these genes and MDD. The aim of our study was to analyze the possible association between MDD and polymorphisms in HTR2A (5-hydroxytryptamine receptor 2A), BDNF and APOE genes in a sample of the Argentinean population previously studied for 2 polymorphisms in SLC6A4 (Solute Carrier Family 6 Member 4) gene. Five polymorphisms were studied (rs6311 and rs6313 in HTR2A; rs429358 and rs7412 in APOE, and rs6265 in BDNF) in 95 MDD patients and 107 non-related controls. No statistically significant differences were observed between groups when analyzing the association with a single marker using logistic regression; however, when a possible combinatory effect of the polymorphisms (including previously studied polymorphisms in SLC6A4 gene) was analyzed using a dominant model for the risk alleles, the genotypes L/S_10/12_G/A (OR=3.57(95%CI=1.43-8.93); p=0.004, adjusted p-value=0.01) in SLC6A4 and BDNF genes and L/S_10/12_T/C_3/3_G/A in SLC6A4, HTR2A, APOE and BDNF genes (OR=5.99(95%CI=1.66-21.56); p=0.002, adjusted p-value=0.07), were more prevalent in patients than in controls (20%vs.6% and 15%vs.3%, respectively). Even though it is necessary to replicate these findings in a larger population, our results suggest a possible interaction between molecules involved in neurogenesis (BDNF and APOE), serotoninergic neurotransmission (SLC6A4 and HTR2A) and the pathogenesis of MDD. (AU)

La disfunción en la neurotransmisión serotoninérgica ha sido clásicamente asociada con el trastorno depresivo mayor (TDM); sin embargo, otras vías y procesos parecerían tener un rol en esta enfermedad, como la neurogénesis y moléculas asociadas: el factor neurotrófico derivado del cerebro (BDNF) y la apoliproteína E (APOE). Existen reportes en los que se establecen asociaciones entre polimorfismos en estos genes y el TDM. El objetivo de nuestro trabajo fue analizar la posible asociación entre el TDM y polimorfismos en los genes HTR2A (receptor 5-hidroxitriptamina 2A), BDNF y APOE en una muestra de la población argentina previamente estudiada para 2 polimorfismos en el gen SLC6A4 (transportador soluble familia 6 miembro 4). Se estudiaron 5 polimorfismos (rs6311 y rs6313 en HTR2A; rs429358 y rs7412 en APOE; rs6265 en BDNF) en 95 pacientes con TDM y 107 controles no relacionados. No se observaron diferencias significativas entre grupos al analizar la asociación por regresión logística con un único marcador; cuando se analizó el posible efecto combinatorio de polimorfismos (incluyendo los previamente estudiados para el gen SCL6A4) usando un modelo dominante para los alelos de riesgo, los genotipos L/S_10/12_G/A (OR=3,57(95%CI=1,43-8,93); p=0,004, valor-p-ajustado=0,01) en SLC6A4 y BDNF y L/S_10/12_T/C_3/3_G/A en SLC6A4, HTR2A, APOE y BDNF (OR=5,99(95%CI=1,66-21,56); p=0,002, valor-p-ajustado=0,07), fueron más prevalentes en pacientes que controles (20%vs.6% y 15%vs.3% respectivamente). Si bien es necesario replicar estos hallazgos en una población más grande, nuestros resultados sugieren una posible interacción entre moléculas involucradas en la neurogénesis (BDNF y APOE), la neurotransmisión serotoninérgica (SLC6A4 y HTR2A) y la patogenia de la depresión mayor. (AU)
Descritores: Apolipoproteínas E/deficiência
Polimorfismo Genético
Fator Neurotrófico Derivado do Encéfalo/deficiência
Receptores 5-HT2 de Serotonina/deficiência
Transtorno Depressivo Maior/genética
Proteínas da Membrana Plasmática de Transporte de Serotonina/deficiência
-Apolipoproteínas E/genética
Argentina/epidemiologia
Fator Neurotrófico Derivado do Encéfalo/genética
Receptores 5-HT2 de Serotonina/genética
Transtorno Depressivo Maior/patologia
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
Limites: Humanos
Masculino
Feminino
Adulto
Pessoa de Meia-Idade
Adulto Jovem
Tipo de Publ: Ensaio Clínico
Responsável: AR2.1 - Biblioteca Central


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Id: biblio-846610
Autor: Julio, Ariane Rivellis.
Título: Desenvolvimento e validação de métodos bioanalíticos para o monitoramento dos produtos das vias metabólicas do triptofano em linhagem celular de glioma humano / Development and validation of bioanalytical methods for monitoring the product of the metabolic pathways of tryptophan in human glioma cell line.
Fonte: São Paulo; s.n; 2016. 188 p. tab, graf, ilus.
Idioma: pt.
Tese: Apresentada a Universidade de São Paulo. Faculdade de Ciências Farmacêuticas para obtenção do grau de Doutor.
Resumo: O metabolismo do triptofano (Trp) se dá pela via das quinureninas (QUIN), pela via serotoninérgica (SER) e pela via das aminas traço. A primeira gera QUIN e uma variedade de outros metabólitos secundários. Quando conduzida pela enzima indolamina 2,3 dioxigenase (IDO) contribui para os fenômenos de tolerância e imune escape de células tumorais; e quando conduzida pela triptofano 2,3 dioxigenase (TDO) no fígado, participa na síntese da niacina e NAD. A via SER leva à formação do neurotransmissor serotonina (SER), que pode gerar o hormônio melatonina (MEL), respectivamente e outros metabólitos biologicamente ativos. Outra via menos estudada, a via das aminas traço, produz produtos neuroativos. Dada a abrangência e importância das rotas metabólicas do Trp, nós desenvolvemos e validamos uma metodologia bioanalítica robusta, seletiva e sensível por cromatografia líquida de alta eficiência (HPLC), acoplado espectrometria de massas (MS) para a determinação simultânea do Trp e seus 15 metabólitos. Para tanto, escolhemos para a avaliação das três vias, linhagens de glioma humano. A escolha por este tipo celular deveu-se ao grande interesse de estudos de metabolismo de Trp em células tumorais, no qual células de glioma tem sido modelo. Nos ensaios com as células de glioma acompanhamos os efeitos de um indutor e inibidores da primeira etapa de metabolização do Trp pela via das quinureninas, ou seja, IFN-γ (indutor da IDO), 1-metiltriptofano (1-MT; inibidor competitivo da IDO) e 680C91 (inibidor seletivo da TDO). Pudemos observar o impacto que a indução ou a inibição do primeiro passo teve sobre os metabólitos subsequentes e as diferenças no metabolismo das duas linhagens estudadas, A172 e T98G. A linhagem T98G só tem atividade de IDO, enquanto que a A172 tem tanto atividade IDO quanto TDO. A indução por IFN-γ mostrou que essa citocina não só atua na formação da via QUIN, mas possui um impacto modesto nas demais rotas. Observamos também que a inibição do 1-MT mostrou seu impacto nos metabólitos invdividualmente, do que a simples relação Trp-QUIN. Contudo, nosso resultados nos permitiu mostrar pela primeira vez a descrição completa dessas vias, em especial nessas linhagens celulares, podendo supor estratégias terapêuticas nessas rotas que estão relacionadas a progressão ou não tumoral

The tryptophan metabolism (Trp) takes place by means of kynurenine (QUIN), by the serotonin pathway (SER) and by the pathway of trace amines synthesis. The first generates QUIN and a variety of other secondary metabolites. When driven by the enzyme indoleamine 2,3 dioxygenase (IDO) contributes to the phenomena of tolerance and immune escape of tumor cells; and when conducted by tryptophan 2,3 -dioxygenase (TDO) in the liver, participates in the niacin synthesis NAD. The SER pathway leads to the serotonin neurotransmitter (SER) formation, which can generate the hormone melatonin (MEL), respectively and other biologically active metabolites. Another less studied amines trace synthesis pathway produces neuroactive products. Given the scope and importance of Trp metabolic pathways,we developed and validated a robust, sensitive and selective bioanalytical method by high performance liquid chromatography (HPLC) coupled mass spectrometry (MS) for simultaneous determination of TRP and its 16 metabolites. Therefore, we chose to evaluate the three routes, glioma cell lines. The initial choice of this type of cell was due to the great interest in Trp metabolism studies in tumor cells, which glioma cells has been a model. In assays with glioma cells, we followed the effects of an inductor and inhibitors of the first stage of Trp metabolism, via the kynurenine pathway, or IFN -γ (IDO inducer) 1- methyltryptophane (1- MT; competitive IDO inhibitor) and 680C91 (selective TDO inhibitor). We could observe the first step induction or inhibition impact had over the further metabolites and the metabolism differences between the two studied strains, A172 and T98G. The T98G glioma cell has only IDO activity, while the A172 has both IDO and TDO activity as well. The IFN-γ indution showed that this cytokine not only acts in the formation of QUIN route, but has a modest impact on the others routes. Inhibition of IDO showed that the competitive inhibitor has activity in itself than a simple Trp-QUIN relationship. However, our results allow us to show the first time the complete description of these pathways, in particular, in these cell lines that can assume therapeutic strategies in these routes that are related or not with tumor progression
Descritores: Métodos de Análise/análise
Linhagem Celular
Glioma/complicações
Doenças Metabólicas/prevenção & controle
Triptofano
-Cromatografia Líquida de Alta Pressão/métodos
Indolamina-Pirrol 2,3,-Dioxigenase
Melatonina
Neurotransmissores
Neurônios Serotoninérgicos
Proteínas da Membrana Plasmática de Transporte de Serotonina
Triptofano
Responsável: BR40.1 - DBD - Divisão de Biblioteca e Documentacão do Conjunto das Químicas
BR40.1; T 616.0756, J94d. 30100022071-F


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Id: lil-771708
Autor: Rojas, Romina; Vicente, Benjamín; Saldivia, Sandra; Melipillán, Roberto; Aedo, Geraldine; Hormazabal, Naín; Carroza, Ana.
Título: Asociación entre los polimorfismos 5HTTLPR, uMAOA y depresión en una cohorte de pacientes de atención primaria / Association between serotonin transporter and monoamine oxidase A gene polymorphisms and depression
Fonte: Rev. méd. Chile;143(10):1252-1259, oct. 2015. tab.
Idioma: es.
Projeto: FONDECYT.
Resumo: Background: Serotonin plays a central role regulating mood and on the development of depressive disorders. Aim: To study whether 5HTTLPR functional polymorphisms in the serotonin transporter gene or the Monoamine oxidase A gene (uMAOA) were risk markers for depression. Material and Methods: The Composite International Diagnostic Interview (CIDI) was applied to 1,062 consultants in primary health care centers aged between 18 and 75 years to establish the diagnosis of depression. A sample of saliva was obtained for DNA extraction and genetic analyses. Results: No association between the presence of depressive disorders and 5HTTLPR (ss) or uMAOA (3/3) risk genotypes was found. Psychological abuse and the presence of two or more life events were found to be predictors of depression in the studied sample. Conclusions: In this study, 5HTTLPR and uMAOA polymorphisms were not risk factors for depression. However, psychological abuse and the presence of two or more life events were risk factors for depressive disorders.
Descritores: Depressão/genética
Predisposição Genética para Doença/genética
Monoaminoxidase/genética
Polimorfismo Genético/genética
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
-Biomarcadores
Depressão/psicologia
Genótipo
Estudos Prospectivos
Fatores de Risco
Fatores Socioeconômicos
Estresse Psicológico/complicações
Limites: Adolescente
Adulto
Idoso
Humanos
Masculino
Pessoa de Meia-Idade
Adulto Jovem
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: CL1.1 - Biblioteca Central


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Id: lil-731109
Autor: Ozbek, Emin; Otunctemur, Alper; Simsek, Abdulmuttalip; Polat, Emre Can; Ozcan, Levent; Köse, Osman; Cekmen, Mustafa.
Título: Genetic polymorphism in the serotonin transporter gene-linked polymorphic region and response to serotonin reuptake inhibitors in patients with premature ejaculation
Fonte: Clinics;69(11):710-713, 11/2014. tab.
Idioma: en.
Resumo: OBJECTIVES: Serotonin plays a central role in ejaculation and selective serotonin reuptake inhibitors have been successfully used to treat premature ejaculation. Here, we evaluated the relationship between a polymorphism in the serotonin transporter gene-linked polymorphic region (5-HTTLPR) and the response of patients with premature ejaculation to SSRI medication. METHODS: Sixty-nine premature ejaculation patients were treated with 20 mg/d paroxetine for three months. The Intravaginal Ejaculatory Latency Time and International Index of Erectile Function scores were compared with baseline values. The patients were scored as having responded to therapy when a 2-fold or greater increase was observed in Intravaginal Ejaculatory Latency Time compared with baseline values after three months. Three genotypes of 5-HTTLPR were studied: LL, LS and SS. The appropriateness of the allele frequencies in 5-HTTLPR were analyzed according to Hardy-Weinberg equilibrium using the χ2-test. RESULTS: The short (S) allele of 5-HTTLPR was significantly more frequent in responders than in nonresponders (p<0.05). Out of the 69 total PE patients, 41 patients (59%) responded to therapy. There was no significant difference in the International Index of Erectile Function score at the end of therapy between the responder and nonresponder groups. The frequencies of the L allele and S allele were 20% and 39%, respectively, in the responder group (p<0.05). CONCLUSION: We conclude that premature ejaculation patients with the SS genotype respond well to selective serotonin reuptake inhibitor therapy. Further studies with large patient groups are necessary to confirm this conclusion. .
Descritores: Polimorfismo Genético
Paroxetina/uso terapêutico
Ejaculação Precoce/tratamento farmacológico
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
Inibidores de Captação de Serotonina/uso terapêutico
-Frequência do Gene
Estudos de Associação Genética
Genótipo
Reação em Cadeia da Polimerase
Ejaculação Precoce/genética
Fatores de Tempo
Resultado do Tratamento
Limites: Adulto
Humanos
Masculino
Pessoa de Meia-Idade
Adulto Jovem
Responsável: BR1.1 - BIREME


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Id: lil-730596
Autor: Cividanes, Giuliana; Mello, Andrea; Sallum, Juliana; Fossaluza, Victor; Medeiros, Marcio de; Maciel, Mariana; Cavalcante-Nobrega, Luciana; Mari, Jair; Mello, Marcelo; Valentte, Nina.
Título: Lack of association between the 5-HTTLPR and positive screening for mental disorders among children exposed to urban violence and maltreatment
Fonte: Rev. bras. psiquiatr;36(4):277-284, Oct-Dec/2014. tab.
Idioma: en.
Projeto: Conselho Nacional de Desenvolvimento Científico e Tecnológico; . Coordenação de Aperfeiçoamento de Pessoal de Nível Superior.
Resumo: Objective: To ascertain whether genetic variations in the serotonin transporter gene (5-HTTLPR 44-bp insertion/deletion polymorphism) influence an increase in depressive and anxiety symptoms in children and adolescents exposed to high levels of violence. Methods: Saliva samples were collected from a group of children who were working on the streets and from their siblings who did not work on the streets. DNA was extracted from the saliva samples and analyzed for 5-HTTLPR polymorphism genotypes. Results: One hundred and seventy-seven children between the ages of 7 and 14 years were analyzed (114 child workers and 63 siblings). Data on socioeconomic conditions, mental symptoms, and presence and severity of maltreatment and urban violence were collected using a sociodemographic inventory and clinical instruments. There was no positive correlation between the 5-HTTLPR polymorphism and presence of mental symptoms in our sample, although the children were exposed to high levels of abuse, neglect, and urban violence. Conclusions: Despite previous studies that associated adult psychiatric disorders with the 5-HTTLPR polymorphism and a history of childhood maltreatment, no such association was found in this sample of children at risk. .
Descritores: Transtornos de Ansiedade/genética
Maus-Tratos Infantis/psicologia
Transtorno Depressivo/genética
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
-Transtornos de Ansiedade/psicologia
Brasil
Transtorno Depressivo/psicologia
Estudos de Associação Genética
Predisposição Genética para Doença
Acontecimentos que Mudam a Vida
Polimorfismo Genético
Fatores de Risco
Saliva
Fatores Socioeconômicos
Inquéritos e Questionários
População Urbana
Limites: Adolescente
Criança
Feminino
Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-669106
Autor: Valencia, Ana Victoria; Páez, Ana Lucía; Sampedro, María Elena; Ávila, Clara; Cardona, Julio César; Mesa, Catalina; Galvis, Lina; Carrizosa, Jaime; Camargo, Mauricio; Ruiz, Andrés; Cornejo, William; Bedoya, Gabriel.
Título: Evidencia de asociación entre el gen SLC6A4 y efectos epistáticos con variantes en HTR2A en la etiología del autismo en la población antioqueña / Evidence for association and epistasis between the genetic markers SLC6A4 and HTR2A in autism etiology
Fonte: Biomédica (Bogotá);32(4):585-601, oct.-dic. 2012. ilus, tab.
Idioma: es.
Resumo: Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, con un fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base en los estudios de respuesta a medicamentos y la hiperserotoninemia, característica común en el autismo. Se han implicado múltiples moléculas en el metabolismo y la neurotransmisión de la serotonina; sin embargo, los resultados de los estudios han tenido poca congruencia entre diferentes poblaciones. Objetivos. Evaluar la relación entre el autismo y el polimorfismo de nucleótido simple (Single Nucleotide Polymorphism, SNP) en los genes SLC6A4, HTR2A e ITGB3, en una muestra de la población antioqueña. Materiales y métodos. Se genotipificaron 42 núcleos familiares con autismo para 10 variantes en los genes SLC6A4, ITGB3 y HTR2A. Se evaluó la asociación utilizando la prueba de desequilibrio en la transmisión. Se exploró el impacto de la interacción entre estos genes y el autismo, utilizando la reducción multidimensional. Resultados. Se encontró asociación de las variantes rs4583306 (OR=2,6, p=0,004) y rs2066713 (OR=2,2 p=0,03), en el gen SLC6A4, y asociación de combinaciones genotípicas entre los genes SLC6A4 y HTR2A y el riesgo de autismo (p=0,0001). Conclusiones. Se encontró asociación significativa con variantes en el gen transportador de serotonina con el autismo, al igual que interacción entre variantes en los genes HTR2A con SLC6A4. Estos resultados concuerdan con los de estudios previos en otras poblaciones y son pruebas a favor del papel del sistema serotoninérgico en la etiología del espectro autista.

Introduction. Autism spectrum disorders are severe neurodevelopmental disorders with a strong genetic component. The potential role of the serotoninergic system in the development of autistic disorder has been based on the observation of hyperserotoninemia in autistic subjects and the results of drug treatment studies. Multiple molecules involved in serotonin metabolism and neurotransmission have been studied; however, replication studies have been inconsistent. This may be partially related to the marked genetic heterogeneity of autism in different populations. Objectives. The relationship between autism and single nucleotide polymorphisms of SLC6A4, HTR2A and ITGB3 genes was evaluated in an urban population of northwestern Colombia. Materials and methods. In Antioquia, Colombia, 42 families with history of autism were screened for 10 SNPs in SLC6A4, HTR2A and ITGB3 genes and evaluated for associations with the transmission disequilibrium test. The interactions among these genes and autism was assessed with multidimensional reduction methods. Results. A significant main effect was seen among the SLC6A4 gene variants rs4583306 (OR=2.6, p=0.004) and rs2066713 (OR=2.2, p=0.03). No main effect of the ITGB3 or HTR2A variants was found, however, in the interaction effects, the SLC6A4 and HTR2A genes demonstrated significant evidence of association with autism (p<0.001). Conclusion. Significant association of markers were discovered within the SLC6A4 gene and the combination of SLC6A4 and HTR2A (S-A) genes to autism. These results were consistent with previous studies conducted in other populations and provide further evidence for the implication of the serotoninergic system in the etiology of autistic disorders.
Descritores: Transtornos Globais do Desenvolvimento Infantil/genética
Epistasia Genética
/genética
INTEGRIN BETAABATTOIRS/genética
Polimorfismo de Nucleotídeo Único
/genética
RECEPTOR, SEROTONIN, ABDOMEN-HTTEMEFOSA/genética
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética
-Transtornos Globais do Desenvolvimento Infantil/epidemiologia
Colômbia/epidemiologia
Frequência do Gene
Estudos de Associação Genética
Genótipo
Desequilíbrio de Ligação
Avaliação de Sintomas
Serotonina/fisiologia
Limites: Criança
Pré-Escolar
Feminino
Humanos
Masculino
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: CO332 - Facultad de Medicina


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Id: lil-647747
Autor: Yan, Chi; Xin-Guang, Liu; Hua-Hong, Wang; Jun-Xia, Li; Yi-Xuan, Li.
Título: Effect of the 5-HT4 receptor and serotonin transporter on visceral hypersensitivity in rats
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;45(10):948-954, Oct. 2012. ilus, tab.
Idioma: en.
Resumo: Visceral hypersensitivity plays an important role in motor and sensory abnormalities associated with irritable bowel syndrome, but the underlying mechanisms are not fully understood. The present study was designed to evaluate the expression of the 5-HT4 receptor and the serotonin transporter (SERT) as well as their roles in chronic visceral hypersensitivity using a rat model. Neonatal male Sprague-Dawley rats received intracolonic injections of 0.5% acetic acid (0.3-0.5 mL at different times) between postnatal days 8 and 21 to establish an animal model of visceral hypersensitivity. On day 43, the threshold intensity for a visually identifiable contraction of the abdominal wall and body arching were recorded during rectal distention. Histological evaluation and the myeloperoxidase activity assay were performed to determine the severity of inflammation. The 5-HT4 receptor and SERT expression of the ascending colon were monitored using immunohistochemistry and Western blot analyses; the plasma 5-HT levels were measured using an ELISA method. As expected, transient colonic irritation at the neonatal stage led to visceral hypersensitivity, but no mucosal inflammation was later detected during adulthood. Using this model, we found reduced SERT expression (0.298 ± 0.038 vs 0.634 ± 0.200, P < 0.05) and increased 5-HT4 receptor expression (0.308 ± 0.017 vs 0.298 ± 0.021, P < 0.05). Treatment with fluoxetine (10 mg·kg-1·day-1, days 36-42), tegaserod (1 mg·kg-1·day-1, day 43), or the combination of both, reduced visceral hypersensitivity and plasma 5-HT levels. Fluoxetine treatment increased 5-HT4 receptor expression (0.322 ± 0.020 vs 0.308 ± 0.017, P < 0.01) but not SERT expression (0.219 ± 0.039 vs 0.298 ± 0.038, P = 0.654). These results indicate that both the 5-HT4 receptor and SERT play a role in the pathogenesis of visceral hypersensitivity, and its mechanism may be involved in the local 5-HT level.
Descritores: Hipersensibilidade/metabolismo
Síndrome do Intestino Irritável/metabolismo
/metabolismo
RECEPTORS, SEROTONIN, ABDOMEN-HTABBREVIATIONS AS TOPIC/metabolismo
Proteínas da Membrana Plasmática de Transporte de Serotonina/metabolismo
Vísceras/metabolismo
-Animais Recém-Nascidos
Western Blotting
Doença Crônica
Modelos Animais de Doenças
Ensaio de Imunoadsorção Enzimática
Fluoxetina/farmacologia
Hipersensibilidade/tratamento farmacológico
Imuno-Histoquímica
Síndrome do Intestino Irritável/induzido quimicamente
Síndrome do Intestino Irritável/tratamento farmacológico
Ratos Sprague-Dawley
Índice de Gravidade de Doença
Inibidores de Captação de Serotonina/farmacologia
Limites: Animais
Masculino
Ratos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-639933
Autor: Rengifo Ramos, Lucero; Gaviria Arias, Duverney; Salazar Salazar, Liliana; Vélez, Juan Pablo; Lozano Pardo, Stella.
Título: Polimorfismos en el gen del transportador de serotonina (SLC6A4) y el trastorno afectivo bipolar en dos centros regionales de salud mental del Eje Cafetero(Colombia) / Polymorphism in the serotonin transporter gene (SLC6A4) and emotional bipolar disorder in two regional mental health centers from the Eje Cafetero (Colombia)
Fonte: Rev. colomb. psiquiatr;41(1):86-100, ene.-abr. 2012. ilus, graf, tab.
Idioma: es.
Resumo: Introducción: Los polimorfismos indel en la región promotora y los polimorfismos de tamaño en el intrón 2 del gen transportador de serotonina se han asociado con el trastorno afectivo bipolar 1 (TAB 1) en diferentes poblaciones. El objetivo fue analizar las frecuencias genotípicas y alélicas en ambas regiones del gen en un estudio de casos y controles en Risaralda y Quindío (Colombia) para encontrar una asociación con TAB 1 y compararlas con estudios similares. Métodos: Se analizaron 133 pacientes y 120 controles. Con PCR se analizaron los polimorfismos indel L y S de la región promotora y los de tamaño (VNTR) STin 2.10 y STin 2.12 del segundo intrón del gen SLC6A4. Resultados: Las frecuencias genotípicas y alélicas en los polimorfismos S y L fueron muy similares en casos y controles. Sin embargo, el genotipo LL se encontró incrementado no significativamente en la población general con TAB 1 (OR=1,89; IC95%= 1,1-3,68) y al separarla por género. Los OR para este genotipo en la oblación general (OR=1,89; IC95%=1,1-3,68) en mujeres (OR=2,22; IC95%=1,04-5,66) y en hombres (OR=1,62; IC95%=0,71-4,39). En los polimorfismos VNTR STin 2.10 y STin2.212 tampoco se observaron diferencias significativas entre las frecuencias genotípicas y alélicas. Conclusiones: No encontramos asociación entre los polimorfismos de las regiones 5-HTTLPR y el intrón 2 del gen transportador de serotonina en los pacientes con TAB 1, ni en la población total, ni al separarla por género. Nuestros resultados son similares a los encontrados en poblaciones caucásicas y difieren de los encontrados en asiáticas y brasileras…

Introduction: The indel polymorphisms in the promoting region and the 2nd intron polymorphisms in the serotonin transporter gene (SLC6A4) have been associated to bipolar disorder 1 (BD1) in several population studies. The objective was to analyze the genotypic and allelic frequencies in both gene regions in a study of cases and controls with individuals from Risaralda and Quindío (Colombia) so as to establish possible associations to BD1, and compare results with previous and similar studies. Methods: 133 patients and 120 controls were studied. L and S indel polymorphisms in the promoting region were analyzed by PCR, together with VNTR STin2.10 and STin 2.12 VNTRs polymorphisms in the 2nd intron of the SLC6A4 gene Results: Genotypic and allelic frequencies for the S and L polymorphisms were similar both in cases and controls. However, the LL genotype was significantly increased both in BD1 population (OR=1.89; CI95%=1.1-3.68), and when discriminated by gender. This particular genotype in general population is OR=2.22; IC95%=1.04-5.66 for women, and OR=1.62; IC 95%=0.71-4.39 for men. No significant genotypic and allelic differences were found for VNTR STin2.10 and STin 2.12. polymorphisms. Conclusions: No association was found between polymorphisms of 5-HTTLPR polymorphisms and the 2nd intron of the serotonin ransporting gene in general patients with BD1, nor when compared by gender. Our results are similar to those reported for Caucasian populations and differ from those of Asian and Brazilian populations…
Descritores: Relatos de Casos
Genótipo
Proteínas da Membrana Plasmática de Transporte de Serotonina
Responsável: CO78 - Asociación Colombiana de Psiquiatría



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