In a new study, researchers have identified a subtype of autism arising from a cluster of genes that regulate cholesterol metabolism and brain development.
They found 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 strong alterations in lipid blood, the analysis showed.
The researchers say their findings can inform both the design of precision-targeted therapies for this specific form of autism and enhance screening efforts to diagnose autism earlier.
The research was conducted by a team at Harvard Medical School, Massachusetts Institute of Technology and Northwestern University.
Autism and autism spectrum disorders, estimated to affect one in 54 children in the United States, are among the most complex heritable conditions.
Thousands of gene variants, both rare and common, have been implicated in autism, likely through an intricate and not-well understood interplay between genetic and environmental factors—both before and after birth.
The new study findings not only underscore this complexity but also show the critical importance of defining the various subtypes of the condition and developing treatments that target subtype-specific anomalies.
In one that contained more than 2.7 million records of patients seen at Boston Children’s, including more than 25, o00 children with autism, the researchers identified notable lipid alterations in children with autism, including changes in levels of their bad cholesterol (LDL), good cholesterol (HDL) and triglycerides.
Overall, 6.5% of those who had an autism diagnosis also had abnormal lipid levels. Individuals with autism were nearly twice as likely to have abnormal lipid tests results as those without autism.
There was also a pronounced familial link.
Mothers with lipid abnormalities were 16% more likely to have a child with autism than mothers without lipid abnormalities.
The risk of having a child with autism among fathers with lipid abnormalities was 13% greater than in males with normal lipid levels.
And within families with more than one child, children diagnosed with autism were 76% more likely to have abnormal lipid profiles than their siblings.
Among individuals with autism and abnormal lipid levels on their blood work, conditions such as epilepsy, sleep disorders, and attention deficit hyperactivity disorder were markedly more common than among those without elevated lipid levels.
The findings suggest dyslipidemia may alter brain development in general.
People with autism and dyslipidemia were also more likely to have certain hormonal and metabolic conditions including anemia, hypothyroidism, and vitamin D deficiency.
The autism-dyslipidemia link persisted even when the researchers accounted for the possible influence of drugs commonly used in people with autism, some of which are known to affect lipid levels.
These findings can help design precision-targeted treatments that home in on the specific defect underlying the development of dyslipidemia-related autism.
One author of the study is Isaac Kohane, chair of the Department of Biomedical Informatics in the Blavatnik Institute at Harvard Medical School.
The study is published in Nature Medicine.
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