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Polimorfismos en genes de la vía de los folatos y su asociación con enfermedades humanas
Resumen
El folato juega un papel esencial en procesos celulares importantes, entre ellos la síntesis de precursores del ADN y eventos epigenéticos como la metilación del ADN. Polimorfismos en genes involucrados en la vía de los folatos pueden estar asociados a diferentes tipos de enfermedades humanas, principalmente defectos en el tubo neural, autismo, enfermedades cardiovasculares y diversos tipos de cáncer. Se piensa que las variantes polimórficas TSER y 1494del6 del gen Timidilato sintasa (TYMS), C677T y A1298C del gen Metilentetrahidrofolato reductasa (MTHFR) y A1298G del gen Metionina sintasa (MTR) podrían ser funcionalmente relevantes y estar asociadas al riesgo de padecer ciertas enfermedades humanas. Por esta razón, la presente revisión tiene por objetivo describir estos polimorfismos y su posible asociación a patologías humanas. El abordaje molecular de estos genes, aunado a factores ambientales, puede ayudar a dilucidar la función del folato en el desarrollo de enfermedades.
Recibido: 12/12/2019
Aprobado: 2/01/2020
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