While brain diseases like Alzheimer’s disease or Parkinson’s disease have well-defined pathologies, autism and other psychiatric diseases have had a lack of defining pathology.
This makes it difficult to develop more effective treatments.
In a study from UCLA, scientists found that brain changes in autism are comprehensive throughout the cerebral cortex rather than just particular areas thought to affect social behavior and language.
The study represents a comprehensive effort to characterize autism at the molecular level.
In the study, the team found brain-wide changes in virtually all of the 11 cortical regions analyzed, regardless of whether they are higher critical association regions—those involved in functions such as reasoning, language, social cognition and mental flexibility—or primary sensory regions.
Just over a decade ago, the team led the first effort to identify autism’s molecular pathology by focusing on two brain regions, the temporal lobe and the frontal lobe.
Those regions were chosen because they are higher-order association regions involved in higher cognition—especially social cognition, which is disrupted in autism.
In the new study, researchers examined gene expression in 11 cortical regions by sequencing RNA from each of the four main cortical lobes.
They compared brain tissue samples obtained after death from 112 people with autism against healthy brain tissue.
While each profiled cortical region showed changes, the largest drop off in gene levels were in the visual cortex and the parietal cortex, which processes information like touch, pain and temperature.
The researchers said this may reflect the sensory hypersensitivity that is frequently reported in people with autism.
Researchers found strong evidence that 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 autism rather than a result of the disorder.
One of the next steps is to determine whether researchers can use computational approaches to develop therapies based on reversing gene expression changes the researchers found in autism.
If you care about autism, please read studies that strange eating habits may signal autism, and cats may help decrease anxiety for kids with autism.
For more information about health, please see recent studies about vitamin D that may hold the clue to more autism, and results showing this thing can protect children from severe COVID-19.
The study was conducted by Dr. Daniel Geschwind et al and published in Nature.
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