The shared pathways were linked to neuron maturation, synapse formation, and the control of gene activity. Further analysis pointed to a group of genes involved in organizing DNA and regulating which genes are switched on or off. These genes sit high in the regulatory chain, influencing many downstream processes previously linked to autism.
To test whether this network played an active role, the team reduced the activity of several key regulators using CRISPR-based methods in neural cells. This led to downstream changes similar to those seen in the autism models.
However, organoids from individuals with idiopathic autism showed less consistent changes, likely reflecting the complex and distributed genetic risk seen in most autism cases.
