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?
Autism spectrum disorder (ASD) is linked to over 1,200 genetic risk factors, sparking the question of whether these diverse mutations impact the brain in entirely distinct ways or share common biological mechanisms. A research team, led by Professor Eunjoon Kim from the Center for Synaptic Brain Dysfunctions at the Institute for Basic Science (IBS), has uncovered two opposing patterns of brain gene activity in mice carrying different autism-risk mutations.
By examining more than 1,000 mouse brain transcriptomes, researchers identified distinct molecular responses in two groups of genetically engineered mouse models. These patterns differ in terms of genes involved in nerve cell communication and gene regulation, as well as their responses to certain drugs like fluoxetine and lithium.
This study, published in the journal Science, provides a new framework for understanding autism-related mechanisms and drug responses across genetically diverse mouse models.
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