Duke Researchers Map Downstream Effects of a Small Genetic Mutation on Brain Function

Although autism has many different causes, science has shown that, in some cases, it is small changes in the structure of proteins that determine how brain cells function and cause challenges in social and communication skills.

“We know that mutations of specific genes can contribute to autism, intellectual disability, epilepsy, and other neurodevelopmental diagnoses. Creative science is required to understand how gene mutations lead to these diagnoses,” explains Scott Soderling, PhD, a cell biologist and the George Barth Geller Distinguished Professor for Research in Molecular Biology at Duke University.

Soderling leads a team of investigators who have conducted research using gene editing in animal models, new methods to target proteins in specific types of brain cells, and machine learning to uncover the precise biological basis of autism. Their work aims to understand how natural cell responses could be co-opted in ways that could improve social and communication skills for autistic individuals.

Already, the team has published research focusing on how a small mutation in the gene Scn2a, a powerful gene that permits neurons to communicate with each other in the brain, causes some of the symptoms of autism. Using CRISPR-genome engineering, the team demonstrated that the same gene mutation in an animal model results in difficulty with social behaviors and communication, two of the hallmark challenges for autistic individuals. Their work confirmed that this mutation is one of the causes of autism.

Next, the researchers will investigate the connection further, testing whether restoring levels of Scn2a improves brain function that results in increased social and communication skills. Their work could help discover new therapeutic strategies for treating autism and could also be applied to other conditions such as Alzheimer’s Disease, Parkinson’s Disease, depression, and many others.