Immune dysfunction in the cerebellum of mice lacking the autism candidate gene Engrailed 2

Immune system dysfunction has been described in autism spectrum disorder. Here we tested the hypothesis that cerebellar defects are accompanied by immune dysfunction in adult mice lacking the autism-candidate gene Engrailed 2 (En2). Gene ontology analyses revealed that biological processes related to immune function were over-represented in the cerebellar transcriptome of En2(-/-) mice. Pro-inflammatory molecules and chemokines were reduced in the En2(-/-)cerebellum compared to controls. Conversely, pro-inflammatory molecules were increased in the peripheral blood of mutant mice. Our results suggest a link between immune dysfunction and cerebellar defects detected in En2(-/- )mice.

Automated summary

This study investigates the association between immune dysfunction and cerebellar defects in autism spectrum disorder. The cerebellar transcriptome of En2(-/-) mice shows over-representation of biological processes related to immune function, while pro-inflammatory molecules are reduced in the cerebellum and increased in the peripheral blood of mutant mice.