A Korean research team has found that very different genetic routes to autism can converge on two broad patterns of change in the brain, potentially giving researchers a simpler framework for a condition associated with more than 1,200 risk genes.
Two patterns emerge across different mutations
Researchers from the Institute for Basic Science and the Korea Institute of Science and Technology Information analyzed mice carrying mutations in 17 autism-risk genes, according to Dong-A Ilbo and Kyunghyang Shinmun. The work, reported as published in Science, grouped the models by patterns of gene activity rather than by the specific mutation that produced them.
The models separated into two broad groups. In one, signaling activity between nerve cells was reduced; in the other, it increased. The reports said comparable patterns were also visible in human autism brain data, suggesting the split may capture a biological feature that extends beyond the animal models used in the experiment.
Autism spectrum disorder is biologically diverse, and people with the same behavioral diagnosis can have very different underlying molecular changes. A framework based on recurring brain-response patterns could give researchers a smaller set of mechanisms to test instead of treating every risk gene as a separate disease pathway.
The team also reported indications that models within the same group may respond similarly to the same drugs. The finding does not establish a treatment for people with autism, and the evidence described in the Korean reports relies substantially on animal models. The next scientific step is to test whether the two-pattern framework holds in larger human datasets and whether it can predict treatment response.