CTNNB1 in neurodevelopmental disorders

Abstract

CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been mainly focused on its role in cancer. Recently, CTNNB1 has also been found involved in neurodevelopmental disorders (NDDs), such as intellectual disability, autism, and schizophrenia. Mutations of CTNNB1 lead to the dysfunction of the Wnt signaling pathway that regulates gene transcription and further disturbs synaptic plasticity, neuronal apoptosis, and neurogenesis. In this review, we discuss a wide range of aspects of CTNNB1 and its physiological and pathological functions in the brain. We also provide an overview of the most recent research regarding CTNNB1 expression and its function in NDDs. We propose that CTNNB1 would be one of the top high-risk genes for NDDs. It could also be a potential therapeutic target for the treatment of NDDs.