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CPEB4 and Autism: Identifying the Factors Behind Protein Dysregulation

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Lay summary

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and repetitive patterns of behaviour. It affects worldwide significantly, with an estimated prevalence of approximately 1% of the global population.

Genetic studies have revealed the polygenic aetiology of autism, involving the contribution of a substantial number of genes that, on their own, may not have significant effects, but combined, they can collectively lead to the ASD phenotype.

Cytoplasmic Polyadenylation Element Binding family proteins (CPEBs) play a crucial role in the regulation of gene expression. An imbalance in the levels of a specific protein within the CPEB family, CPEB4, has been observed in individuals with autism spectrum disorder. CPEB4 has been found to bind transcripts of numerous genes associated with ASD, particularly those classified as high-confidence ASD genes, suggesting that CPEB4 may play a pivotal role in orchestrating their expression.

This study aims to explore the causes of CPEB4 misregulation in ASD. The results could lead to identifying new therapeutic targets for alleviating the neurodevelopmental deficits associated with autism.

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