APC loss in autism and Intellectual disabilities
New mouse model of AutismAPC is a critical protein in brain neurodevelopment. Genetic deletion of APC in mice results in a autistic like behaviour and intellectual disability. Interestingly, APC was recently identified as a risk gene for neurodevelopmental brain disorders. Heterozygous deletions of APC in patients are associated with intellectual disabilities and seizures.
APC is a negative regulator of Wnt signaling and its deletion leads to excessive levels of b-catenin which is known to have dual functions in the N-cadherin synaptic adhesion complex and the canonical Wnt signaling pathway. Deregulation of both networks in the developing brain leads to altered axon guidance cues, excessive branching, aberrant density and plasticity of excitatory synapses.
Our study is defining a novel molecular and functional framework to advance discovery of new and effective therapeutic interventions for autism and ID