APC Gene Associated With Cognitive Disability, Autism in Mice

the Psychiatry Advisor take:

Autistic-like behaviors and decreased cognitive ability may be associated with disruption of the function of the Adenomatous Polyposis Coli (APC) gene, according to a study published in Molecular Psychiatry.

When Tufts researchers deleted the gene from select neurons in the developing mouse brain, the mice showed reduced social behavior, increased repetitive behavior, and impaired learning and memory formation, similar to behaviors seen in individuals with autism and intellectual disabilities.

This study is the first to evaluate how the loss of APC from nerve cells in the forebrain affects brain development, learning, and behavior. 

In addition to observing autistic-like behaviors and cognitive impairments in the mice, researchers found significant molecular changes in the brain. Eliminating APC chiefly from the excitatory neurons in the forebrain led to altered levels of specific proteins that regulate gene expression and influenced the structure, number, and function of synapses.

“What makes this study interesting is that although there are hundreds of risk genes implicated in autism, the removal of this single gene produced a multi-syndromic disorder similar to that seen in individuals with both cognitive deficits and autism, ‘says co-author Jonathan Alexander, a neuroscience candidate at the Sackler School of Graduate Biomedical Sciences at Tufts University.