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ALTERED NEUOPHYSIOLOGICAL ACTIVITY OF IPSC-DERIVED NEURONAL MODELS OF 22Q11.2 DELETION SYNDROME
Gemma Wilkinsonand 2 co-authors
Cardiff University
FENS Forum 2026 (2026)
Barcelona, Spain
Board PS06-09PM-034
Presentation
Date TBA
Board: PS06-09PM-034
Event Information
Poster Board
PS06-09PM-034
Poster
View posterAbstract
22q11.2 deletion syndrome (22q11.2DS) or DiGeorge Syndrome is a neurodevelopmental disorder that occurs in approximately 1 in 2,000 live births. It is the highest single genetic risk factor for schizophrenia, but also has elevated risk for many neuropsychiatric conditions, as well as for co-morbid symptoms, such as heart defects. Its strong correlation between an identifiable genetic lesion and emergence of symptoms offers a route to investigate the underlying cause of schizophrenia. Here, we use patient-derived induced pluripotent stem cell lines (iPSCs) and a CRISPR-generated isogenic iPSC 22q11.2 deletion, differentiated into cortical neurons to study the pathogenic mechanisms that lead to increased risk of schizophrenia and other cognitive symptoms. Neuronal activity was characterised using multi-electrode arrays and high-throughput calcium assays. Patient lines showed altered levels of spontaneous activity and alterations in the pattern of synchronised bursting. Depolarisation-induced calcium response was also decreased in 22q11.2DS and neurons showed altered dose-dependent responses to drugs targeting NMDA and AMPA receptors. These results suggest that 22q11.2 neurons show changes in excitability, possibly due to altered calcium and glutamate signalling pathways. Future work aims to determine which parts of these pathways underpin the functional changes in the neurons and to use pharmacological intervention to rescue the neurocellular phenotypes.
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