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1.
Epilepsy Behav ; 80: 191-196, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-29414551

RESUMEN

OBJECTIVE: The objective was to evaluate the genetic and biochemical profiles associated with oxidative stress (OS) in patients with temporal lobe epilepsy with mesial temporal sclerosis (TLE-MTS) and a healthy control group, and also to verify the possible existence of association between OS markers and psychiatric disorders (PD) in group with TLE-MTS. METHODS: Forty-six patients with refractory TLE-MTS and 112 healthy controls were included. Psychiatric evaluation occurred through Diagnostical and Statistical Manual of Mental Disorders (DSM-5) criteria. A peripheral blood sample was collected for analysis of glutathione S-transferase (GST) T1/M1 polymorphisms and serum levels of malondialdehyde (MDA) and antioxidant capacity equivalent to the trolox (TEAC), serum markers of OS. Student's t-test, Fisher's exact test, Chi-square test, and Analysis of Variance (ANOVA) were used, with a significance level of P<0.05. RESULTS: The PD were observed in 27 patients of the group with TLE-MTS (58.6%); major depressive disorder (MDD) was the most frequent. Serum levels of MDA (P<0.0001) and TEAC (P<0.0001) were higher in group with TLE-MTS. When patients with MDD were compared with patients without PD, significant differences were observed between MDA (P=0.002) and TEAC (P=0.003) serum levels. Patients with TLE-MTS and MDD presented higher levels when compared with patients with TLE-MTS without PD and with another PD except MDD. CONCLUSIONS: The present study observed significantly higher serum levels of MDA and of TEAC in patients with refractory TLE-MTS in comparison with the control group. The MDD was observed as an important issue associated with higher OS levels in refractory TLE-MTS. Further studies are needed to investigate the association of OS, TLE-MTS, and PD.


Asunto(s)
Epilepsia del Lóbulo Temporal/psicología , Estrés Oxidativo , Esclerosis/complicaciones , Lóbulo Temporal/patología , Adulto , Estudios de Casos y Controles , Trastorno Depresivo Mayor/sangre , Trastorno Depresivo Mayor/complicaciones , Trastorno Depresivo Mayor/patología , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Epilepsia del Lóbulo Temporal/sangre , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/patología , Femenino , Humanos , Masculino , Malondialdehído/sangre , Persona de Mediana Edad , Esclerosis/sangre
2.
Arq Neuropsiquiatr ; 73(6): 506-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26083886

RESUMEN

INTRODUCTION: The pathogenesis of Parkinson's disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in the alpha-synuclein gene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD). METHOD: A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping of SNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05. RESULTS: Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence of SNCA-A53T mutation was observed in all individuals. CONCLUSION: SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.


Asunto(s)
Mutación , Enfermedad de Parkinson/genética , Polimorfismo de Longitud del Fragmento de Restricción/genética , alfa-Sinucleína/genética , Adulto , Anciano , Brasil , Estudios de Casos y Controles , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Factores Sexuales
3.
Arq Neuropsiquiatr ; 71(8): 527-32, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23982010

RESUMEN

Genetic and environmental factors affect the pathogenesis of Parkinson's disease (PD). Genetic variants of the enzyme glutathione S-transferases (GST) may be related to the disease. This study aimed to evaluate the influence of genetic variants of GST (GSTT1/GSTM1) and their association with the exposure to environmental toxins in PD patients. We studied 254 patients with PD and 169 controls. The GSTM1/GSTT1 variants were analyzed by polymerase chain reaction. We applied the Fisher's exact test and the χ2 test for statistical analysis (p<0.05). The present and absence for GSTT1 and GSTM1 were similar in patients and controls. The null for GSTT1 and GSTM1 (0/0) and exposure to pesticides prevailed in patients (18%) compared to controls (13%, p=0.014). This study suggests the association between PD and previous exposure to pesticides, whose effect may be enhanced in combination with null for GSTT1/GSTM1.


Asunto(s)
Glutatión Transferasa/genética , Enfermedad de Parkinson/enzimología , Plaguicidas/toxicidad , Anciano , Estudios de Casos y Controles , Femenino , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Enfermedad de Parkinson/genética , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Factores de Riesgo
4.
Arq. neuropsiquiatr ; 71(8): 527-532, ago. 2013. tab, graf
Artículo en Inglés | LILACS | ID: lil-684096

RESUMEN

Genetic and environmental factors affect the pathogenesis of Parkinson's disease (PD). Genetic variants of the enzyme glutathione S-transferases (GST) may be related to the disease. This study aimed to evaluate the influence of genetic variants of GST (GSTT1/GSTM1) and their association with the exposure to environmental toxins in PD patients. We studied 254 patients with PD and 169 controls. The GSTM1/GSTT1 variants were analyzed by polymerase chain reaction. We applied the Fisher's exact test and the χ2 test for statistical analysis (p<0.05). The present and absence for GSTT1 and GSTM1 were similar in patients and controls. The null for GSTT1 and GSTM1 (0/0) and exposure to pesticides prevailed in patients (18%) compared to controls (13%, p=0.014). This study suggests the association between PD and previous exposure to pesticides, whose effect may be enhanced in combination with null for GSTT1/GSTM1.


Fatores genéticos e ambientais influenciam a patogênese da doença de Parkinson (DP). Variantes genéticas das enzimas glutationa S-transferases (GST) parecem estar envolvidas com a doença. Os objetivos deste estudo foram avaliar a influência de variantes genéticas de GST (GSTT1/GSTM1) e sua associação com exposição a toxinas ambientais em pacientes com DP. Foram estudados 254 pacientes com DP e 169 controles. As variantes para GSTM1/GSTT1 foram analisadas por reação em cadeia da polimerase. Para análise estatística foram aplicados os testes de Fisher e do χ2 (p<0,05). Tanto a presença quanto a nulidade para GSTT1 e GSTM1 foram semelhantes em pacientes e controles. A nulidade para GSTT1 e GSTM1 (0/0) e contato com agrotóxicos prevaleceu nos pacientes (18%) em relação aos controles (13%, p=0,014). Este estudo sugere associação entre DP e contato prévio com agrotóxicos, cujo efeito parece potencializado em combinação com nulidade para GSTT1/GSTM1.


Asunto(s)
Anciano , Femenino , Humanos , Masculino , Glutatión Transferasa/genética , Enfermedad de Parkinson/enzimología , Plaguicidas/toxicidad , Estudios de Casos y Controles , Interacción Gen-Ambiente , Predisposición Genética a la Enfermedad , Genotipo , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Enfermedad de Parkinson/genética , Factores de Riesgo
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