Researchers at Harvard Medical School, Massachusetts Institute of Technology and Northwestern University have identified a subtype of autism arising from a cluster of genes that regulate cholesterol metabolism and brain development.

The researchers say their findings, published Aug. 10 in Nature Medicine, can inform both the design of precision-targeted therapies for this specific form of autism and enhance screening efforts to diagnose autism earlier.

The team identified the shared molecular roots between lipid dysfunction and autism through DNA analysis of brain samples—findings that they then confirmed by examining medical records of individuals with autism. Indeed, both children with autism and their parents had pronounced alterations in lipid blood, the analysis showed.

The results of the study, the researchers said, raise many questions; key among them are: Just how do lipid alterations drive neurodevelopmental dysfunction and could normalizing lipid metabolism affect disease outcomes?

The new findings set the stage for future studies to answer these questions and others.

“Our results are a striking illustration of the complexity of autism and the fact that autism encompasses many different conditions that each arise from different causes—genetic, environmental or both,” said study senior investigator Isaac Kohane, chair of DBMI. “Identifying the roots of dysfunction in each subtype is critical to designing both treatments and screening tools for correct and timely diagnosis—that is the essence of precision medicine.”

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