Evaluación de polimorfismos en genes relacionados con la inflamación en pacientes mexicanos con epilepsia

Epilepsy is the most common neurological disease and approximately 30% of patients who suffer from it do not respond to drug treatment, that is, they present drug-resistant epilepsy. Temporal lobe epilepsy (TLE) is the most frequent form of focal epilepsy in adults and the majority of patients with...

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Detalles Bibliográficos
Autor: YAIR EMILIANO DELGADO NAMORADO
Tipo de recurso: tesis de maestría
Estado:Versión publicada
Fecha de publicación:2019
País:México
Institución:Universidad Autónoma Metropolitana
Repositorio:Repositorio Institucional de la UAM Iztapalapa
Idioma:español
OAI Identifier:oai:bindani.izt.uam.mx:1v53jx05d
Acceso en línea:https://doi.org/10.24275/uami.1v53jx05d
Access Level:acceso abierto
Palabra clave:info:eu-repo/classification/LEM/Biología experimental
info:eu-repo/classification/LEM/Epilepsia
info:eu-repo/classification/LEM/Biology, Experimental
info:eu-repo/classification/LEM/Polimorfismo (Genética)
info:eu-repo/classification/LEM/Genetic polymorphisms
info:eu-repo/classification/LEM/Epilepsy Evaluation
info:eu-repo/classification/cti/2
Descripción
Sumario:Epilepsy is the most common neurological disease and approximately 30% of patients who suffer from it do not respond to drug treatment, that is, they present drug-resistant epilepsy. Temporal lobe epilepsy (TLE) is the most frequent form of focal epilepsy in adults and the majority of patients with TLE hippocampal sclerosis (HS) is also present. On the other hand, it is estimated that the incidence of seizures in patients with brain tumors (EPT) varies between 30% and 100%. Several studies suggest that there is a positive feedback loop between epileptogenesis and brain inflammation. Similarly, it is known that inflammation can be modulated by apolipoprotein E (ApoE). In Mexico, there are few articles estimating the influence of genetic factors and neuroinflammation in the course of epilepsy. For this reason, in this study, some variants present in PTGS2, CR1, CRP, TNF-α, IL-1, IL-1, IL-6, IL-10, and ApoE genes were evaluated in Mexican patients with refractory TLE with and without HS, and EPT. The following associations were identified: a) G/G and G/G genotypes of the variants rs1800795 (IL6) and rs20417 (PTGS2), respectively, with EPT. b) The G/G genotype of rs1799724 (TNF-α) with HS. c) The genotype C/G (rs1800947) and G/G (rs20417) located in CRP and PTGS2, respectively, with TLE. Finally, it was observed that the combination of the ε4 ApoE allele with the G/G genotype (rs1800795) of IL-6 and G/G (rs20417) of PTGS2 is associated with TLE. These results present possible genetic markers associated with inflammation for TLE, HS and EPT.