In three separate studies, scientists have identified mutations in three new genes believed to be linked with autism, using a method they hope will be able to isolate hundreds of genes related to the disorder within the next three years. The researchers expect that finding these genes will lead the way to a cure.
The gene mutations—CHD8, SNC2A and KATNAL2—are all ‘de-novo’, meaning they show up in the genes of affected children for the first time and result from mutations in the production of sperm or egg.
Combined, the studies from Yale University, University of Washington, and Harvard University, in collaboration with researchers from Mount Sinai School of Medicine in New York City, involved 580 families of children with autism. The mutations were discovered through a state-of-the-art technology known as exome sequencing, which analyzes all the protein coding regions of the human genome. This accounts for approximately 23,000 genes, though only 2 percent of the entire genome.
However, the researchers who conducted the study believe that 2 percent of the genome may be able to identify 200 hundred mutations involved in autism spectrum disorders within as little as three years, adding to the 100 genes that have already been identified.