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New insights into autism spectrum disorders
US researchers have identified a molecular network that comprises many of the genes previously shown to contribute to autism spectrum disorders.
US researchers have identified a molecular network that comprises many of the genes previously shown to contribute to autism spectrum disorders.
The findings provide a map of some of the crucial protein interactions that contribute to autism and will help uncover novel candidate genes for the disease.
"The study of autism disorders is extremely challenging due to the large number of clinical mutations that occur in hundreds of different human genes associated with autism," said Michael Snyder, professor at the Stanford Center for Genomics and Personalized Medicine and the lead author of the study.
The researchers generated their interactome - the whole set of interactions within a cell - using the BioGrid database of protein and genetic interactions.
"We have identified a specific module within this interactome that comprises 119 proteins and which shows a very strong enrichment for autism genes," Snyder added.
Gene expression data and genome sequencing were used to identify the protein interaction module with members strongly enriched for known autism genes.
The sequencing of the genomes of 25 patients confirmed the involvement of the module in autism; the candidate genes for autism present in the module were also found in a larger group of more than 500 patients that were analysed by exome sequencing.
The module identified is enriched in autism genes had two distinct components.
"One of these components was expressed throughout different regions of the brain. The second component had enhanced molecular expression in the corpus callosum. Both components of the network interacted extensively with each other," Snyder said.
