RESUMO
AIM: To search for genetic mechanisms of facial emotion recognition (FER) impairment, one of the features of schizophrenia that affects social adaptation of patients. Based on the view implicating the interplay between dopaminergic and glutamatergic systems into the pathogenesis of schizophrenia, authors explored the interaction effects of the C366G polymorphism in the GRIN2B gene encoding NMDA receptor subunit NR2B with ANKK1/DRD2 Taq1A and 48-VNTR DRD4 polymorphisms on FER. MATERIAL AND METHODS: GRIN2B -DRD2 interaction effects were studied in a sample of 237 patients and 235 healthy controls, GRIN2B - DRD4 in 268 patients and 208 controls. RESULTS AND CONCLUSION: Both effects were significant in combined samples of patients and controls (GRIN2B X DRD2, F=4.12, p=0.043; GRIN2B X DRD4, F=6.43, p=0.012). Further analysis confirmed the interaction effect of GRIN2B and DRD2 polymorphisms on FER in patients with schizophrenia. In patients with a less efficient allele of the DRD2 in the absence of the minor allele of the GRIN2B C366G polymorphism, the results were close to normal values while patients with minor alleles of both polymorphisms showed the worst results. This finding is in line with the conceptions on a possible role of NMDA-receptor hypofunction and D2-mediated regulation of NMDA-receptor activity in FER impairments in schizophrenia.
Assuntos
Inteligência Emocional/genética , Reconhecimento Facial , Receptores de Dopamina D2/genética , Receptores de Dopamina D4/genética , Receptores de N-Metil-D-Aspartato/genética , Esquizofrenia/genética , Psicologia do Esquizofrênico , Adulto , Alelos , Feminino , Loci Gênicos , Marcadores Genéticos , Humanos , Masculino , Polimorfismo Genético , Adulto JovemRESUMO
OBJECTIVE: Neurotoxic metabolites of the kynurenine pathway are thought to be implicated in the pathogenesis of schizophrenia. The enzyme indoleamine 2,3-dioxygenase (IDO) catalyzes the initial step of the kynurenine pathway that converts tryptophan to kynurenine metabolites. IDO is induced by proinflammatory cytokines. We studied IL-1Β T-511C (rs16944), IL-1Β C3954T (rs1143634), IDO VNTR and IDO rs9657182 polymorphisms in patients with schizophrenia and controls. MATERIAL AND METHODS: Genotyping was performed in 296 patients with schizophrenia (ICD-10 F20.0) and 355 healthy controls. RESULTS: The multiple dimension reduction (MDR) analysis revealed a combination included alleles С (T-511C), Т (C3954T), V1 (VNTR) and С (rs9657182), which was associated with schizophrenia (OR 3,3 CI 95% 2,3-4,8). CONCLUSION: This is the first report of the interaction between IL-1Β and IDO genes. Further research into genes of the kynurenine pathway is needed.
Assuntos
Indolamina-Pirrol 2,3,-Dioxigenase/genética , Interleucina-1beta/genética , Esquizofrenia/genética , Adulto , Alelos , Feminino , Humanos , Interleucina-1beta/metabolismo , Cinurenina/genética , Cinurenina/metabolismo , Masculino , Redes e Vias Metabólicas/genética , Repetições Minissatélites , Polimorfismo Genético , Esquizofrenia/metabolismo , Triptofano/genética , Triptofano/metabolismo , Adulto JovemRESUMO
NRG1 is a strong candidate for schizophrenia though its role in the pathogenesis of the disease remains unknown. One of the approaches to study mechanisms underlying the association between NRG1 and schizophrenia is to investigate the association between a gene and an endophenotype of schizophrenia, e.g., cognitive dysfunctions. Authors looked for the association of 478B14-848 и 420M9-1395 microsatellites with semantic verbal fluency, working and episodic memory in 338 patents with schizophrenia, 162 their unaffected relatives and 316 healthy controls from the Russian population. It was found associations between allele 0 at 478B14-848 (220 bp) and long-term episodic memory and between allele 0 at 420M9-1395 (274 bp) and short-term memory in schizophrenic patients. The frequency of homozygotes for 420M9-1395 was higher in the group of patients as compared to controls. In conclusion, the risk allele 0 at 420M9-1395 is associated with the short-term memory deficit while allele 0 at 478B14-848 is protective for long-term memory deficits.
Assuntos
Transtornos Cognitivos/genética , Transtornos da Memória/genética , Neuregulina-1/genética , Esquizofrenia/complicações , Adulto , Alelos , Feminino , Humanos , Masculino , Memória de Longo Prazo , Memória de Curto Prazo , Pessoa de Meia-Idade , Polimorfismo Genético , Psicologia do EsquizofrênicoRESUMO
Blood serotonin concentration is thought to regulate behavior and may be implicated in the development of psychopathological symptoms as well. Serotonin transporter regulates the levels of serotonin by the reuptake of this neurotransmitter from the synaptic cleft. In this study we compare the platelet serotonin concentration and constant V(max) value in patients with schizophrenia and healthy controls with different 5-HTTLPR genotypes. The study included 60 patients and 62 controls. Biochemical parameters mentioned above were associated with a 5-HTTLPR genotype. Carriers of the LL genotype had lower serotonin blood concentration and V(max) compared to genotypes containing one or two copies of an S allele both in patients and controls. The results obtained suggest that the genetic variant may contribute to the state of serotoninergic system.
Assuntos
Polimorfismo Genético , Esquizofrenia/genética , Esquizofrenia/metabolismo , Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/metabolismo , Serotonina/metabolismo , Adulto , Idoso , Alelos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , SinapsesRESUMO
The relationship between MRI-parameters of frontal lobes and levels of autoantibodies to nerve growth factor (Aab-NGF) in the blood serum of patients with schizophrenia and their relatives was studied. The negative correlation between the Aab-NGF level and the total volume of frontal lobes (r= -0,59; p<0,01) was found in the group of patients. No significant correlations were found in the control groups of healthy subjects without family history of schizophrenia and relatives of patients. The authors concede that Aab-NGF may play a substantial role in the development of neuromorphological changes in schizophrenia.
Assuntos
Autoanticorpos/sangue , Autoimunidade/imunologia , Lobo Frontal/patologia , Fator de Crescimento Neural/sangue , Esquizofrenia/sangue , Adulto , Progressão da Doença , Feminino , Humanos , Técnicas Imunoenzimáticas , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Prognóstico , Esquizofrenia/diagnóstico , Esquizofrenia/imunologia , Índice de Gravidade de DoençaRESUMO
Eighty-four families with schizophrenia: 84 patients (probands) and 73 their first-degree unaffected relatives as well as 37 normals and their relatives have been studied using pathopsychological (pictogram) and Luria's neuropsychological tests. The most prominent abnormalities both in patients and relatives were global characteristics of auditory-speech memory predominantly related to left subcortical and left temporal regions. Abnormalities of immediate recall of short logic story (SLS) were connected with dysfunction of the same brain regions. Less prominent delayed recall abnormalities of SLS were revealed only in patients and connected with left subcortical, left subcortical-frontal and left subcortical-temporal zones. This abnormality was absent in relatives and age-matched controls. The span of mediated retention was decreased in patients and, to a less degree, in relatives. A quantitative psychological analysis has demonstrated the disintegration ("schizys") between semantic conception and image memory structure in patients and, to a less degree, in relatives. Data obtained show primary memory abnormalities in families with schizophrenia related to the impairment of decoding information process in the subcortical structures, the left-side dysfunction of brain structures being predominantly typical.
Assuntos
Família , Memória/fisiologia , Esquizofrenia/fisiopatologia , Adulto , Seguimentos , Humanos , Pessoa de Meia-Idade , Psicometria/métodos , Estudos Retrospectivos , Esquizofrenia/genéticaRESUMO
A relationship between neurophysiological and psychological characteristics of attention was studied in 18 patients with schizophrenia and their 34 mentally healthy relatives: parents and siblings (20 subjects) and children (14 subjects). In patients, a decrease of P300 auditory evoked potentials significantly correlated with disturbances of attention stability and volume as well as characteristics of involuntary attention. At the same time, in the groups of relatives the anomalies of attention stability and attention in conditions of prolonged concentration were positively related to P300 latency.
Assuntos
Atenção/fisiologia , Potenciais Evocados Auditivos , Esquizofrenia , Psicologia do Esquizofrênico , Adulto , Criança , Interpretação Estatística de Dados , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esquizofrenia/fisiopatologiaRESUMO
The peculiarities of brain electric activity in mentally normal parents of schizophrenics (52 subjects) as compared to the control group of mentally normal subjects without family history of manifest psychosis (22 subjects). In both groups, EEG spectral densities and auditory evoked potentials (AEP) characteristics were compared. The parents of schizophrenics appeared to differ from controls by decrease of N1 amplitude and prolongation of N2, P3 which was similar to that observed in patients with schizophrenia. The findings are discussed as evidence of heritability of deviations in cognitive processes.
