Synaptic-dependent developmental dysconnectivity in 22q11.2 deletion syndrome
F G Alvino1, S Gini1,2, A Minetti3
1Functional Neuroimaging Laboratory, Istituto Italiano di Tecnologia, Center for Neuroscience and Cognitive Systems @UniTn, Rovereto, Italy.
Biorxiv : the Preprint Server for Biology
|April 8, 2024
Summary
Genetic factors like chromosome 22q11.2 deletion impact brain connectivity in neuropsychiatric disorders. This study reveals age-related brain network changes in 22q11 deletion syndrome, linked to synaptic mechanisms.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Chromosome 22q11.2 deletion is a major genetic risk for autism and schizophrenia.
- Altered brain functional connectivity is observed in 22q11 deletion syndrome (22q11DS).
- The developmental trajectory and biological basis of this dysconnectivity are not well understood.
Conclusions:
- Synaptic mechanisms play a crucial role in the developmentally mediated functional brain dysconnectivity observed in 22q11DS.
- GSK3β inhibition presents a potential therapeutic avenue for addressing these neurodevelopmental alterations.
- The findings highlight a conserved cross-species mechanism underlying brain network dysfunction in 22q11DS.
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