CPEB4 Condensates Drive Autism

In a paper published in Nature, researchers at IRB Barcelona have uncovered how losing an eight-amino-acid neuronal microexon transforms the RNA-binding protein CPEB4 from fluid biomolecular condensates into rigid aggregates. The team, led by Dr. Raúl Méndez and Dr. Xavier Salvatella, has shown that this solidification of condensates locks away hundreds of mRNAs needed for synapse formation and neuronal maturation.

The discovery may have major implications for autism spectrum disorder (ASD): the same microexon is frequently skipped in people with idiopathic ASD, so restoring it—or re-liquefying the condensates—could become a therapeutic route. This prevents normal mRNA release and thus provides a concrete molecular trigger for neurodevelopmental disruption, and it also shows how the physical properties of condensates act as an extra layer of control over brain function and disease.

More information: Key breakthrough in autism: pivotal role of CPEB4 condensates revealed