Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
Neurol Sci ; 45(4): 1635-1643, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37875597

RESUMO

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.


Assuntos
Epilepsia Generalizada , Epilepsia Mioclônica Juvenil , Masculino , Humanos , Feminino , Epilepsia Mioclônica Juvenil/genética , Citocromo P-450 CYP2C9/genética , Citocromo P-450 CYP2C19/genética , Genótipo , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...