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Groundbreaking Study Unveils Role of Neanderthal Genes in Autism

By Loyola University on Fri, 06/07/2024 - 13:29

Loyola University New Orleans and Clemson University researchers uncover a primary cause of autism

A landmark study recently published in the prestigious science journal Nature: Molecular Psychiatry has unveiled a new discovery in autism research. The research is the first to show that certain genetic traits inherited from Neanderthals play a significant role in autism. Dr. Emily Casanova, assistant professor of neuroscience at Loyola University New Orleans, co-authored this pioneering work alongside her esteemed colleagues at Clemson University. 

Fourteen years ago, scientists discovered that modern humans carry Neanderthal DNA, a legacy of interbreeding with our extinct cousins. Since then, researchers have linked these ancient genetic variants to various health conditions, including severe COVID-19, autoimmune diseases, and mental health conditions. This new study adds autism to the list, showing that certain Neanderthal-derived genetic markers are more common in individuals with autism than in the general population.

"Our findings suggest that some Neanderthal genetic variants could play a role in autism susceptibility," said Casanova. 

This research sheds light on autism's complex genetic landscape and opens up new possibilities for understanding its origins. It revealed that specific Neanderthal genetic variants are enriched in people with autism compared to ethnically matched control groups. Furthermore, the researchers also found 25 genetic markers linked to the brain that are more common in people with autism.

In addition to these findings, the study discovered genetic markers linked to autism in different ethnic groups. For example, the Neanderthal DNA marker in the SLC37A1 gene was associated with autism and epilepsy in white non-Hispanic individuals. Despite these associations, the researchers emphasize that autistic individuals do not carry more Neanderthal DNA overall compared to non-autistic individuals. Instead, a subset of Neanderthal-derived genetic variations is more prevalent in people with autism and their families.

"We are excited about the potential implications of these findings for autism research," added Casanova. “Understanding the role of Neanderthal DNA in autism could lead to new insights and approaches to diagnosis and a better understanding of the different causes of autism. One example of diagnostics would be the use of these markers in gene panels that could aid in the diagnosis of autism.” 




About Loyola University New Orleans
Loyola University New Orleans is a Catholic, Jesuit university, located in the heart of the picturesque Uptown neighborhood in New Orleans. For more than 100 years, Loyola has helped shape the lives of our students, as well as the history of our city and the world, through educating men and women in the Jesuit traditions of academic excellence and service to others. Our more than 50,000 living graduates serve as catalysts for change in their communities around the world as they exemplify the comprehensive, values-laden education they received at Loyola.