Findings illustrate how a genetic change affects a vital brain pathway, with implications for the development of treatments
Scientists at Washington University School of Medicine in St. Louis have identified a genetic mutation that may underlie communication difficulties and resistance to change in some people with autism. They found that an error in the gene (CELF6) disturbs production of serotonin, a chemical that relays messages in the brain.
The newly discovered mutation appears to be rare. However, it provides important clues to the biological basis of autism, the scientists published their report online today in the Journal of Neuroscience. As such, the gene and the pathway it affects offer potential targets for future treatments.
Around 30 percent of patients with autism have abnormal blood levels of serotonin. Scientists have much to learn about its role in autism. However, research has shown that serotonin helps regulate breathing, body temperature and sleep as well as mood and learning. Importantly, it is produced by only a limited number of brain nerve cells.
The authors used a novel approach that focuses on biological circuits linked to specific symptoms. In doing so, they identified CELF6 as a new candidate autism risk gene.
Then, working in mice, they showed that a mutation in the gene resulted in a sharp drop in serotonin in the brain. It also produced autism-like behaviors such as impaired communication and avoidance of new situations
“This research illustrates the importance of using a variety of scientific approaches to identify risk factors and mechanisms that link them to symptoms,” comments Autism Speaks Senior Vice President for Scientific Affairs Andy Shih, Ph.D. “This helps us better understand the underlying biology and inform our efforts to translate scientific discoveries into treatments that improve lives.” While every person with autism is unique in the challenges he or she faces, these shared brain pathways offer potential targets for such treatments, Dr. Shih adds.
Autism Speaks continues to fund a wealth of research on the causes, early diagnosis and treatment of autism. You can explore these studies using this website’s Grant Search.