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20 de abril de 2024
golazo científico
Corrigen un defecto en el ADN de un embrión que causa la muerte súbita martes 22 de agosto de 2017 18:32
Por primera vez en la historia, un equipo de científicos corrigió una mutación asociada con una grave patología cardíaca en embriones humanos, y que deriva luego en edad adulta en una causa de muerte súbita. La investigación estuvo a cargo de científicos de Estados Unidos, Corea del Sur y China, y para lograr el objetivo utilizaron una técnica inédita denominada CRISPR-Cas9.
El estudio implica un importante avance para demostrar el potencial de la edición genómica en la prevención de enfermedades hereditarias.
Los investigadores lograron modificar el ADN con el objetivo de corregir un error en el gen de la fase embrionaria fruto de la unión del óvulo con el espermatozoide. Esta mutación está centrada en la miocardiopatía hipertrófica, una enfermedad cardíaca que afecta a una de cada quinientas personas en todo el mundo y que puede provocar la muerte súbita, la cual se origina principalmente porque una de las dos copias del gen MYBPC3 es errónea.
A diferencia de las investigaciones realizadas en China para modificar el genoma de embriones humanos, esta vez idearon un ingenioso experimento para corregir el defecto genético. En tanto, la posibilidad de seleccionar embriones (de tomar los sanos y desechar los que no sirven) ya existe, pero lo que propone esta investigación publicada recientemente en la revista Nature es “reparar” los embriones y sanarlos.
Los resultados del estudio arrojaron una tasa exitosa del 72%: de los 58 embriones creados, 42 se desarrollaron sin la mutación que causa la enfermedad, sin generar efectos colaterales. Luego de la investigación los embriones fueron destruidos. En tanto, este novedoso avance posibilita nuevos caminos para corregir mutaciones de genes que provocan varios tipos de cáncer y enfermedades extrañas.