Transcriptome Analysis Reveals Dysregulation of Innate Immune Response Genes and Neuronal Activity-Dependent Genes in Autism

Published December 10, 2014 in Nature

Using resources from the Autism BrainNet, a new study in brains affected by autism revealed a common factor of activated immune cells. Led by Dr. Dan Arking at Johns Hopkins, the project analyzed dats collected from 72 individuals, both with and without autism The findings compared gene expression across these two groups and from different brain banks. It also utilized a large dataset that contains data on existing autism risk genes. This represents the largest dataset so far in studying gene expression in the brains of autism. Previous studies have been too small to make meaningful conclusions, because of the lack of tissue available. The team, which also included the University of Alabama at Birmingham, saw that in individuals with ASD, a type of immune cell called microglia was always active, with genes for inflammation always being turned on. Arking noted that he did not think that the inflammation itself as the root cause of autism, but that it is the marker of a downstream effect. This type of inflammation is not well understood but it highlights the lack of current understanding about how innate immunity controls neural circuits, Dr. Andrew West, associated professor of neurology at the University of Alabama at Birmingham said.

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