Canadian scientists have identified a gene, DDX53, as a contributor to autism, marking a significant step forward in genetic research on the condition. The discovery, published in The American Journal of Human Genetics, highlights the gene's role in brain development and function. Although located on the X chromosome, DDX53 was not previously associated with autism.
The study, led by researchers from The Hospital for Sick Children (SickKids) in Canada and Italy’s Istituto Giannina Gaslini, examined 10 autistic individuals from eight families. They found rare variants in the DDX53 gene that were inherited maternally. Further analysis of autism databases, including Autism Speaks MSSNG and the Simons Foundation Autism Research Initiative, identified an additional 26 individuals with similar DDX53 variants.
Dr Stephen Scherer, Senior Scientist at SickKids, stated that pinpointing DDX53 enhances understanding of autism's biological mechanisms, particularly in males. He emphasised that the discovery could lead to more accurate diagnostics for families. The study also underscores the complexity of autism, reinforcing the importance of detailed genetic analysis.
Lead researcher Dr Marcello Scala of the Istituto Giannina Gaslini said the gene had never been linked to neuropsychiatric conditions before. He noted that the findings not only support DDX53’s link to autism but also suggest the gene influences behavioural traits, paving the way for future research into related biological pathways.
