Puberty's Impact on Brain Wiring: A Groundbreaking Discovery

A groundbreaking UCLA Health study reveals that dramatic changes in brain connectivity during puberty could explain why certain children with a rare genetic condition face an increased risk of developing autism and schizophrenia. This vital research shines a light on the complex biological mechanisms behind developmental psychiatric disorders.

Investigating Chromosome 22q11.2 Deletion Syndrome

The focus of this research is on chromosome 22q11.2 deletion syndrome, a genetic condition linked to a heightened risk of neuropsychiatric disorders. Currently, the mystery surrounding the biological foundations of this link remains puzzling. With the latest findings, however, researchers are unveiling the connection.

The Study: Methodology and Findings

Published in the journal *Science Advances*, the study employed functional brain imaging techniques on both genetically modified mice and humans to explore the mechanisms connecting this genetic mutation to neuropsychiatric disorders. The results were surprising: in both groups, brain regions exhibited hyperconnectivity prior to puberty, only to shift to a state of under-connectivity thereafter, particularly in areas essential for social skills.

Synaptic Changes and Social Behavior

Co-senior author Carrie Bearden, a distinguished professor at the UCLA Health Semel Institute, emphasized that synaptic alterations at the cellular level appear to drive these significant shifts in brain connectivity, impacting social behaviors. Using modified mice, researchers observed an increased density of dendritic spines—critical communication hubs between neurons—during their juvenile phase, followed by a sharp decline after reaching puberty.

Role of GSK3-beta Protein

The study identified the protein GSK3-beta as a potential player in these connectivity changes. By inhibiting this protein, researchers restored neural activity and dendritic spine density in the mice temporarily. Additionally, functional brain imaging of affected humans correlated these neural changes with genes associated with GSK3-beta, providing further support for the theory that altered brain wiring contributes to autism traits.

Implications for Treatment and Understanding

These findings could hold the key to new treatment avenues. Bearden noted, "Our research indicates that excessive pruning of synapses during childhood may lead to the behavioral challenges observed in affected individuals." This paves the way for future studies aimed at preventing or alleviating symptoms associated with chromosome 22q11.2 deletion syndrome.

Conclusion: A Step Forward in Understanding Autism