Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy
Por:
Jara-Prado A., Guerrero-Camacho J.L., Ángeles-López Q.D., Ochoa-Morales A., Dávila-Ortiz de Montellano D.J., Ramírez-García M.Á., Breda-Yepes M., Durón R.M., Delgado-Escueta A.V., Barrios-González D.A., Martínez-Juárez I.E.
Publicada:
1 ene 2024
Resumen:
Juvenile myoclonic epilepsy (JME) is the most common of the generalized genetic epilepsies, with multiple causal and susceptibility genes; however, its etiopathogenesis is mainly unknown. The toxic effects caused by xenobiotics in cells occur during their metabolic transformation, mainly by enzymes belonging to cytochrome P450. The elimination of these compounds by transporters of the ABC type protects the central nervous system, but their accumulation causes neuronal damage, resulting in neurological diseases. The present study has sought the association between single nucleotide genetic variants of the CYP2C9, CYP2C19, and ABCB1 genes and the development of JME in patients compared to healthy controls. The CC1236 and GG2677 genotypes of ABCB1 in women; allele G 2677, genotypes GG 2677 and CC 3435 in men; the CYP2C19*2A allele, and the CYP2C19*3G/A genotype in both sexes were found to be risk factors for JME. Furthermore, carriers of the TTGGCC genotype combination of the ABCB1 gene (1236/2677/3435) have a 10.5 times higher risk of developing JME than non-carriers. Using the STRING database, we found an interaction between the proteins encoded by these genes and other possible proteins. These findings indicate that the CYP450 system and ABC transporters could interact with other genes in the JME. © Fondazione Società Italiana di Neurologia 2023.
Filiaciones:
Genetics Department, National Institute of Neurology and Neurosurgery, Mexico City, Mexico
Facultad de Estudios Superiores Cuautitlan, UNAM, Cuautitlan Izcalli, Mexico
National Institute of Neurology and Neurosurgery, Epilepsy Clinic, Mexico City, Mexico
Universidad Tecnológica Centroamericana (UNITEC), Tegucigalpa, Honduras
Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States
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