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Cambios en todo el genoma en los patrones de lncRNA, splicing y expresión génica regional en el autismo
Neelroop N Parikshak1,2, Vivek Swarup1,2, T Grant Belgard1,2
1Center for Autism Research and Treatment and Program in Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA.
Nature
|December 6, 2016
Resumen
Los factores genéticos en el trastorno del espectro autista (TEA) convergen en vías comunes. Este estudio revela ARN no codificantes desregulados, empalme alterado y diferencias regionales de expresión génica en cerebros con TEA.
Área de la Ciencia:
- La neurociencia
- La genética
- Biología molecular
Sus antecedentes:
- El trastorno del espectro autista (TEA) tiene importantes fundamentos genéticos, pero las vías moleculares subyacentes siguen sin estar claras.
- La heterogeneidad genética en ASD puede converger en mecanismos biológicos compartidos.
- La comprensión de estas vías convergentes es crucial para identificar objetivos terapéuticos.
Objetivo del estudio:
- Para investigar el transcriptoma no codificante, el empalme alternativo y los reguladores moleculares en ASD utilizando una gran cohorte de muestras cerebrales post-mortem.
- Identificar las vías moleculares comunes que subyacen a las diversas causas genéticas de los TEA.
- Explorar los cambios moleculares relacionados con la edad y los patrones regionales de expresión génica en los TEA.
Principales métodos:
- Análisis transcriptómico de muestras de cerebro post-mortem.
- Análisis de ARN no codificantes, incluidos los ARN largos no codificantes (ARNlnc).
- Investigación de patrones alternativos de empalme y diferencias de expresión génica entre regiones cerebrales.
- Análisis de la red de coexpresión para identificar módulos funcionales y trayectorias relacionadas con la edad.
Principales resultados:
- Desregulación de los lncRNAs específicos de los primates asociados con las TEA.
- Regulación a la baja del empalme alternativo en los exones específicos de las neuronas.
- Atenuación de las diferencias normales de expresión génica entre los lóbulos frontal y temporal, potencialmente involucrando a SOX5.
- La firma transcriptómica compartida en el ASD idiopático y el síndrome de duplicación del cromosoma 15q11.2-13.1 (dup15q).
- Cambios relacionados con la edad en las trayectorias de expresión génica microglial y sináptica en individuos con TEA.
Conclusiones:
- Diversos factores genéticos en el TEA pueden converger en vías moleculares comunes.
- Las alteraciones en el ARN no codificante, el empalme y la expresión génica regional contribuyen a la fisiopatología de las TEA.
- El riesgo genético de TEA puede afectar las trayectorias de desarrollo de las funciones microgliales y sinápticas.
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