Autism-risk mutations reveal two opposing patterns of brain gene activity
Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these diverse genetic changes affect the brain in entirely different ways, or do they converge on shared biological mechanisms?
A new study has identified two opposing patterns of brain gene activity in mice carrying different autism-risk mutations, offering a new framework for understanding autism-related mechanisms and responses to experimental drugs. Researchers analyzed over 1,000 mouse brain transcriptomes and found that genetically distinct models could be grouped according to shared molecular changes, revealing two broad molecular groups with opposite effects on genes involved in synaptic communication and regulation of gene activity.
The study suggests that many different genetic mutations converge into a limited number of molecular brain states, providing a framework for understanding autism at the level of shared biology rather than individual genes.
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