Autism-Cholesterol Link: Some Autistic People In US Have Altered Blood Lipid Levels

Around 7% of autistic people in the United States have abnormal blood lipid levels, finds a new study.

Researchers found that this new subtype of autism arises from a cluster of genes that regulate cholesterol metabolism and brain development. They identified that both children with dyslipidemia-associated autism and their parents had pronounced alterations in their blood lipid levels.

The team, comprising of researchers from Harvard Medical School, Massachusetts Institute of Technology, and Northwestern University, identified shared molecular roots between autism and lipid dysfunction by analyzing the genetic material of brain samples.

The findings of the study, published in Nature Medicine, were confirmed after cross-checking medical records of people diagnosed with autism. The researchers said precision-target therapies for this specific form of autism and better screening efforts can help diagnose autism much earlier.

The findings of the study raise the following questions:

1. How do lipid alterations drive neurodevelopmental dysfunction?
2. Could normalizing blood lipid levels affect disease outcomes?

"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. 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," said the study's senior investigator, Isaac Kohane of Harvard Medical School.

Autism and autism spectrum disorder affects one in 54 children in the U.S. and it is the most complex heritable condition. Researchers have found that thousands of gene variants have been implicated with this neurodevelopmental disorder.

The new study not only highlighted the complexity of autism but also demonstrated the critical importance of defining the subtypes of the neurodevelopmental disorder and developing treatments based on the subtype-specific anomalies.

"Think of a Google map and how it overlays various types of information on top of one another—cities, streets, parcels, land use, electrical grids, elevations—for a more detailed representation. This is what we did with our data to get a complete view of genes that have multiple regulatory functions and are implicated in autism," said the study’s co-lead investigator Yuan Luo.