For the first time, researchers have identified a gene called DDX53 associated with autism spectrum disorder (ASD). Located on the human X-chromosome, this finding sheds light on why boys are four times more likely to develop autism than girls. The study, published in the American Journal of Human Genetics, involved 10 individuals with ASD and found that all males without a copy of the gene had classic symptoms.
Led by Dr. Stephen Scherer, the team at Toronto’s Hospital for Sick Children (SickKids) conducted clinical testing and verified the connection between DDX53 and autism. The gene is responsible for producing an RNA helicase protein, which plays a crucial role in regulating gene expression during development. Researchers believe that DDX53 serves as a higher-order monitoring system to ensure other genes are functioning correctly.
While this discovery is significant, it’s essential to note that a single gene variant may not be the sole cause of autism but rather an increased risk factor when combined with other influences. The study also found 17 additional genes on the X-chromosome that might contribute to autism in individuals with ASD. This research provides valuable insights for families seeking answers about their child’s diagnosis and potential treatment options.
The findings come at a time when there is growing public discussion about autism, partly fueled by misinformation campaigns surrounding vaccines and autism. As researchers continue to uncover new information about the complex disorder, they emphasize the importance of evidence-based solutions to improve the lives of those affected.
Source: https://www.theglobeandmail.com/canada/article-newly-identified-gene-sheds-light-on-boys-susceptibility-to-autism