También comprueban cómo impedir que se desarrolle en el cerebro humano
Una nueva investigación ha descubierto cómo se forma el autismo en el cerebro. Ha establecido una relación directa entre una mutación genética, la producción de una proteína, la formación de neuronas defectuosas y la manifestación del autismo. Y comprobado que la mutación genética se puede corregir y evitar el desarrollo de este trastorno.
Una nueva investigación ha aclarado los mecanismos genéticos que están en el origen del autismo y abierto la puerta a la posibilidad de corregir las mutaciones que provocan este trastorno.
Aunque se estima que entre 400 y 1.000 genes pueden estar relacionados con el autismo debido a mutaciones no bien conocidas, el nuevo estudio ha profundizado en esta relación y llegado su origen, al momento en el que una mutación genética altera la formación de neuronas y provoca la aparición del autismo. También ha comprobado que es posible corregir esa mutación genética e impedir que neuronas dañadas desencadenen el autismo.
Los autores de esta investigación lo han comprobado en laboratorio, después de tomar células de la piel de un paciente y de reprogramarlas mediante ingeniería genética para “convertirlas” en células cerebrales. De esta forma, pudieron determinar cómo una célula cerebral portadora de una mutación genética específica de un paciente autista, se desarrolla anormalmente.
Los científicos se concentraron especialmente en el comportamiento de un gen conocido por causar autismo cuando sufre una mutación. Se trata del GRIN2B, un gen importante para la comunicación entre las neuronas maduras y que forma parte de un receptor relevante del cerebro humano (NMDA), que desempeñan un importante papel en la plasticidad neuronal, el aprendizaje y la memoria.
Mecanismo Molecular
Lo primero que observaron es que GRIN2B, además de su relación específica con neuronas maduras, también desempeña un papel importante en la formación de las células madre neurales, que son las células a partir de las cuales se crean las neuronas.
Cuando sufre una mutación, GRIN2B produce una proteína asociada al autismo. A través de la observación de su comportamiento en las células cerebrales humanas creadas en laboratorio, los científicos observaron que las células madre neurales producen esa proteína y que juega un papel clave en los primeros momentos del desarrollo del autismo.
De esta forma, identificaron el mecanismo molecular que desempeña un papel clave en el origen del autismo. Pero llegaron aún más lejos: corrigieron en laboratorio la mutación genética que provocaba la producción de la proteína problemática y de esta forma consiguieron que las células madre neurales afectadas se volvieran sanas y no provocaran autismo.
Resultado mayor
Se trata de un resultado mayor por varios motivos. En primer lugar porque nunca se había llegado tan lejos en el estudio de los orígenes genéticos del autismo. Terapéuticamente es mucho mejor prevenir la aparición del autismo que tratarlo o estudiarlo a lo largo de toda una vida, cuando es mucho más difícil encontrar una solución terapéutica.
En segundo lugar, porque esta investigación otorga a la genética un papel relevante en el origen de este trastorno. No anula otras posibles causas, pero ha permitido comprobar que hay una relación directa entre una mutación genética, la producción de una proteína, la formación de neuronas defectuosas y la manifestación del autismo.
En tercer lugar, se ha comprobado en células humanas. Hasta ahora, los estudios sobre el gen GRIN2B se habían desarrollado principalmente en roedores. La idea de trabajar con células de la piel de un paciente con autismo, de convertirlas en neuronas humanas y observar cómo se forma el autismo, arroja una perspectiva inédita sobre la génesis de este trastorno.
Nueva etapa
Esta investigación, según destacan los investigadores en un comunicado, no cierra un capítulo, sino que abre nuevas perspectivas y nuevos interrogantes al estudio y tratamiento del autismo.
Añaden que todavía se necesita más investigación para evaluar si otros genes del autismo, que se cree que son importantes en las últimas etapas del desarrollo, también son esenciales para el estadio neural temprano que está en el origen de este trastorno.
La dimensión social del autismo añade trascendencia al descubrimiento. El Trastorno del Espectro Autista (TEA), un trastorno neurobiológico del desarrollo que se manifiesta a edades muy tempranas y dura toda la vida, afecta a 1 de cada 59 personas. Daña la capacidad para comunicarse y relacionarse con los demás y tiene una amplia diversidad de síntomas, como rutinas y comportamientos repetitivos, que pueden ser leves o agudos. Una ventana de esperanza se abre ahora para estas personas y sus familias.
| Referencia Disruption of GRIN2B Impairs Differentiation in Human Neurons. Scott Bell et al. Stem Cell Reports. DOI: https://doi.org/10.1016/j.stemcr.2018.05.018 |
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