Autism spectrum disorders (ASD) are frequently associated with immune dysregulation. Peripheral immune responses and microglial function have been the major focus in the field. However, recent studies have suggested that neurons are also able to use their own innate immune receptors, including toll-like receptors (TLRs), to detect the danger signals derived from both endogenous cells and pathogens.
Mutations in the autism susceptibility candidate 2 gene (AUTS2) have long been linked with autism spectrum disorder (ASD) and several neurodevelopmental abnormalities. However, the molecular mechanisms by which AUTS2 functions in normal brain development and how it goes awry in ASD has remained elusive.
Autism has strong genetic origins, but neither common nor rare gene variants explain the majority of cases. This suggests that less-studied portions of the genome may contribute significantly to the disorder.
Certain gene mutations can compromise normal protein functioning, leading to heritable diseases. Although researchers have identified a few genes that are disrupted in some people with autism, for the most part, autism spectrum disorders remain genetically undefined. Mutations in the AUTS2 gene, which most likely result in truncated versions of the AUTS2 protein, have been found in several people who exhibit autism symptoms.