Se han realizado estudios de gemelos y de familias que sugieren fuertemente que algunas personas tienen una predisposición genética a los trastornos del espectro autista.
Los estudios de gemelos idénticos demuestran que, si un gemelo está afectado, entonces el otro estará afectado entre el 35 y 95 por ciento de las veces.
Se están llevando a cabo diversos estudios para determinar los factores genéticos específicos asociados con la presencia de trastornos del espectro autista.
Dentro de las familias con un niño con un trastorno del espectro autista, el riesgo de tener otro niño con el trastorno también aumenta.
Muchos de los genes que se encontraron asociados con los trastornos del espectro autista están involucrados en la función de las conexiones químicas entre las neuronas cerebrales (sinapsis).
Los investigadores están buscando pistas sobre cuáles genes contribuyen al aumento en la susceptibilidad.
En algunos casos, los padres y otros parientes de un niño con un trastorno del espectro autista muestran problemas leves de comunicación social o se involucran en comportamientos repetitivos.
La evidencia también sugiere que los trastornos emocionales como el trastorno bipolar y la esquizofrenia se presentan con más frecuencia de la normal en las familias de personas con trastornos del espectro autista.
Además de las variaciones genéticas que se heredan y están presentes en casi todas las células de una persona, las investigaciones recientes también han demostrado que las mutaciones de novo o espontáneas de los genes pueden influenciar el riesgo de desarrollar trastornos del espectro autista.
Las mutaciones de novo son cambios en las secuencias del ácido desoxirribonucleico o ADN, es decir, en el material hereditario en los seres humanos, que pueden ocurrir espontáneamente en los espermatozoides, en el óvulo o durante la fecundación.
Esta mutación continúa repitiéndose en cada célula a medida que el óvulo fecundado se divide. Estas mutaciones pueden afectar un solo gen o puede haber cambios conocidos como “variaciones en el número de copias”, en las cuales se suprimen o se duplican fragmentos de ADN que contienen varios genes.
Algunos estudios recientes han demostrado que las personas con trastornos del espectro autista tienden a tener más mutaciones genéticas de novo del tipo “variaciones en el número de copias” que las personas que no tienen estos trastornos.
Esto sugiere que, en algunos casos, el riesgo de desarrollar trastornos del espectro autista no es el resultado de mutaciones en genes individuales, sino más bien de mutaciones de codificación espontáneas en muchos genes.
Las mutaciones de novo pueden explicar los trastornos genéticos en los cuales el niño afectado tiene la mutación en cada célula, pero sus padres no la tienen y tampoco hay ningún patrón familiar del trastorno.
El riesgo de los trastornos del espectro autista también aumenta en los niños nacidos de padres de mayor edad.
Todavía se requiere mucha investigación para determinar el papel potencial de los factores ambientales en las mutaciones espontáneas y cómo influyen en el riesgo de desarrollar los trastornos del espectro autista.
FUENTE: NIH, El NINDS tiene la misión de adquirir un conocimiento fundamental sobre el cerebro y el sistema nervioso y utilizar este conocimiento para reducir la carga de las enfermedades neurológicas.
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