0825 GMT September 23, 2019
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, Medical Daily reported.
"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. "We therefore wanted to see to what extent shared molecular pathways are perturbed by the diverse set of mutations linked to autism in the hope of distilling tractable information that would benefit future studies."
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 shows a very strong enrichment for autism genes," remarked Snyder.
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 analyzed by exome sequencing.
The expression of genes in the module was examined using the Allen Human Brain Atlas. The researchers revealed the role of the corpus callosum and oligodendrocyte cells in the brain as important contributors to autism spectrum disorders using genome sequencing, RNA sequencing, antibody staining and functional genomic evidence.