Background: Researchers have now linked several hundred genes to Autism Spectrum Disorder (ASD). Given the large number of genetic variations implicated in ASD, it is unfeasible to understand how all of these genes—and the proteins they encode—connect using experimental techniques. Therefore, researchers use bioinformatics, the process of organizing, storing, and retrieving data for analyses. One such use of bioinformatics is to make protein networks, also known as “interactomes,” which map how proteins function together in a cell.

What’s new: Two recent papers, both published in the scientific journal Cell, used bioinformatics to study the timing of brain development and the parts of the brain that are most associated with ASD. In the first analysis, a collaboration of researchers from across the United States found that 13 to 24 weeks post conception is a particularly sensitive time period based on the level of ASD-related gene products in a specific type of neuron. In the second study, University of California, Los Angeles, researchers used protein interactome mapping to link ASD with specific intracellular pathways. For instance, the interactome revealed that many of the ASD-related genes are highly expressed during synaptic development—a critical process for establishing neuron communication and brain circuitry.

Why it’s important: Based on these studies, and others like them, bioinformatics can help us understand complex disorders as well as basic cellular functioning. In the case of ASD, protein interactomes can tweeze out sensitive stages and locations of development where the impact of ASD-related genes is the greatest. Researchers hope this information could aid in the creation of finely tuned treatments.

Genetics

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