Molecular Brain Network Linked To Underlying Autism Spectrum Disorders

First Posted: Dec 30, 2014 04:23 PM EST
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Various studies have linked autism to air pollution exposure. Yet various underlying genetic factors also be at play. Recent findings published in the journal Molecular Systems Biology reveal that there may be crucial protein interactions that contribute to 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 lead study author Michael Snyder, Professor at the Stanford Center for Genomics and Personalized Medicine, in a news release. "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."

For the study, researchers used gene expression data and genome sequence to determine a whole set of interactions within a cell. They discovered a module comprised of 119 proteins linked to autism genes.

The sequencing of the genomes was present in 25 present participants who had been diagnosed with autism, confirming the involvement of the module in the health issue. Furthermore, the genes were also present in over 500 diagnosed patients who had analyzed exome sequencing.

"Much of today's research on autism is focused on the study of neurons and now our study has also revealed that oligodendrocytes are also implicated in this disease," added Jingjing Li, Postdoctoral Fellow at the Stanford Center for Genomics and Personalized Medicine who helped to spearhead the work. "In the future, we need to study how the interplay between different types of brain cells or different regions of the brain contribute to this disease."

"The module we identified which is enriched in autism genes had two distinct components," Snyder concluded. "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."

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