Interacción de factores genéticos y ambientales en el metabolismo del ácido fólico y la patogénesis de defectos del tubo neural

Abstract

Neural tube defects (NTD) are considered the most frequent and common congenital malformations in humans that affect the development of the central nervous system; the most common types of these birth defects are spina bifida and anencephaly. One of the preventive measures of DNT is the consumption of folic acid; however adequate intake of this essential vitamin does not prevent 100% of cases due to gene- environment interaction; that is, the interaction between genetic and environmental factors. The synergy between these factors will allow the development of these malformations, regardless of folic acid consumption, due to the alteration that occurs in the metabolism of folic acid, in which various polymorphisms and little-known genetic variants are involved. In addition, maternal metabolic conditions allow for a detrimental gene- environment interaction for the fetus, which increases the risk of developing these birth defects. The preventive effect of folic acid varies according to the gene-environment interaction to which the fetus is exposed. The risk of DNTs depends on the synergy between the polymorphisms or genetic variants and the environmental exposure of the pregnant woman to different chemical or physical agents. Therefore, the development of methods is required to differentiate more clearly the susceptibility factors that contribute to the etiology of DNTs induced by the synergy between genetic and environmental factors