The brains of people with autism show a distinct molecular signature, according to the largest-yet postmortem study of people with the condition. The signature reflects alterations in how genes are pieced together and expressed.
“We can be now fairly certain that this pattern really means something,” says lead researcher Daniel Geschwind, distinguished professor of neurology, psychiatry and human genetics at the University of California, Los Angeles.
The study…suggests that the diverse molecular underpinnings of autism converge on a key set of biological pathways.
“Even with very different genetic and presumably also environmental risk factors that place these people with an autism diagnosis, they all seem to share certain features of their gene expression,” says Evan Macosko, assistant professor of psychiatry at Harvard University…The findings “could give us some deep insight not only potentially into the cause of autism, but also how we might be able to [treat] it.”
The splicing seen in the brains of people with autism is known to occur in response to increased neuronal activity…The findings help to firmly establish altered splicing patterns as an important component of autism….
[The study can be found here.]
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