Autism: researchers discover a link with cholesterol

cholesterol

American researchers have found that autism and cholesterol have a group of genes in common. Cholesterol is believed to be associated with a subtype of autism. This is revealed by a new study published in the journal Nature by American researchers at Harvard Medical School, Massachusetts Institute of Technology and Northwestern University.

The scientists analyzed DNA samples from the brain and identified common molecular roots between lipid abnormality and autism.

“Our results are a striking illustration of the complexity of autism and the fact that autism encompasses many different aspects that have different causes – genetic, environmental or both,” says Isaac Kohane, lead author of the study, cited by Harvard Medical School Journal. “Identifying the root causes of dysfunction in each subtype is essential for designing both treatments and diagnostic tools,” he adds.

To identify autism subtypes, the researchers overlaid several layers of data including complete exome sequencing, protein expression patterns and medical records. “Think about a Google map and how it overlays different types of information on top of each other (…) for a more detailed representation,” says Yuan Lo, co-author of the study. “We did the same with our data to get a full picture of genes that have multiple regulatory functions and are involved in autism”.

By analyzing patterns of gene expression from brain samples, the researchers identified a group of exons, involved in both neurodevelopment and fat metabolism. They then studied two large repositories:

One contains over 2.7 million data from patients treated at Boston Children Hospital: these data revealed notable lipid alterations in autistic patients;
The other contains the medical records of more than 34 million people in multiple medical facilities with 80,700 autism diagnoses. 6.5% of them had abnormal lipid levels.

Parental lipid abnormalities are also believed to be a factor favoring autism in children.

“Our results may help design precisely targeted treatments that highlight the specific defect underlying the development of autism linked to dyslipidemia,” concludes Isaac Kohane.

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