THE MISSING GENETIC LINK FOR ENVIRONMENTAL FACTORS IN AUTISM
A group of investigators from Harvard Medical School and Massachusetts Institute of Technology set out to investigate whether examining the genes involved in medical problems that commonly occur in people with autism could illuminate dysregulated pathways that are important in emergence of autism itself.
Their findings revealed the role of immune dysfunction in this wide range of seemingly unconnected disease conditions: several innate-immunity-related pathways were shown to play a crucial role in both autism and related co-morbidities, due to shared due to biology.
“Since both Toll-like receptor signaling and chemokine signaling pathways play crucial roles in innate immunity, the results suggest that this first-line defense system (which protects the host from infection by pathogens and environmental triggers) may be involved in ASD and specific co-morbidities… As innate immunity pathways are imperative in orchestrating the first line-of-defense mechanism against infection-causing pathogens and environmental triggers, their involvement in ASD and its co-morbidities can be thought of as the missing genetic link in the pathophysiology of ASD.”
By looking at the disease genes that overlap these two innate immunity pathways the researchers were able to discriminate between patients with autism and co-morbidities versus controls with at least 70 % accuracy, further proving their importance.
Nazeen S., Palmer N.P., Berger B., et al. (2016) Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities. Genome Biol. Nov 14;17(1):228. doi:10.1186/s13059-016-1084-z