Autism is believed to be influenced by genetic aberrations and perhaps environmental influences. A new study has identified that mutations in three particular genes are linked to autism.
While likely that many additional genetic mutations on different genes will also be linked to the causes of autism, the new findings should provide valuable insight and direction for future studies.
In a series of studies, published in the journal Nature, investigators at Mount Sinai School of Medicine announced the new genetic targets in autism spectrum disorders (ASD).
Gene mutations are glitches in DNA which can put you at risk for a particular disease. The genes with mutations identified in the studies — CHD8, SNC2A, and KATNAL2 — were discovered with new state-of-the-art genomics.
The new technology is known as exome sequencing, in which all protein-coding regions of the genome, called the exome, are analyzed. Researchers say that with further characterization of the genes and sequencing of genes in thousands of families, they will be able to develop novel therapeutics and preventive strategies for autism.
“We now have a good sense of the large number of genes involved in autism and have discovered about 10 percent of them,” said Joseph Buxbaum, Ph.D.
“We need to study many more parents and their affected children if we are to uncover the genes important in ASD. As these genes are further characterized, this will lead to earlier diagnosis and novel drug development. This work is crucial for advancing autism treatment.”
In the study, ASC researchers hypothesized that de novo mutations account for a substantial fraction of the risk for autism. De novo gene mutations are mutations that show up in affected children for the first time and result from mutations in the production of sperm or egg.
The Autism Sequencing Consortium is an international group of autism genetics researchers that is working to identify additional genetic causes of autism through large-scale next-generation sequencing. The institutions involved in this study sequenced data from more than 500 families (both parents and the affected child), examining the protein-enriched areas of the genome.
“When the same mutations are found in multiple affected children and none are found in children without autism, we believe that we have identified mutations that collectively affect a higher proportion of individuals with autism,” said Buxbaum.
“Our studies revealed that the proteins encoded by the mutated genes interact with each other far more than expected, demonstrating significantly greater connectivity than would be expected.”
Additional research discoveries include the finding that certain mutations associated with ASD are mainly of paternal origin. Their findings also support previous research showing an increased risk of developing ASD in children of older fathers.