The study shows nearly all of the 11 cortical regions of the brain are affected by autism spectrum disease (ASD) and the finding will help researchers create a well-defined molecular pathology for ASD, they contend (Nature, November 2, 2022).

The researchers sequenced RNA from each of the four main cortical lobes and compared brain tissue samples obtained postmortem from 112 ASD people with healthy brain tissue. Each cortical region showed changes but the largest decrease in gene levels was in the visual cortex and the parietal cortex. This may reflect the sensory hypersensitivity that is frequently reported in people with ASD, according to the scientists.

Also, there was evidence the genetic risk for autism is enriched in a specific neuronal module that has lower expression across the brain, indicating that RNA changes in the brain are likely the cause of ASD rather than a result of the disorder, they added.

Next, the scientists will use computational approaches to see if they can develop therapies based on reversing gene expression changes evident in ASD. The team plans to use organoids to model the changes.