The aim of this project is to investigate how the genetic deletion underlying Williams syndrome alters the cellular organization of two key brain regions involved in cognition and social behavior.
Williams syndrome (WS) is a rare neurodevelopmental disorder caused by the deletion of approximately 26 genes on chromosome 7. Individuals with WS show characteristic impairments in visuospatial processing and spatial learning, together with unusually high sociability and reduced social inhibition. Previous neuroimaging studies have identified structural and functional abnormalities in the hippocampus and amygdala, but the underlying cellular changes remain poorly understood.
To address this question, our project uses two complementary mouse models carrying the Williams syndrome hemideletion: the WBS+/– model, which retains the Ncf1 gene, and the Complete Deletion (CD) model, in which the Ncf1 gene is deleted. Comparing these models provides the opportunity to distinguish the effects of the WS deletion itself from potential vascular contributions associated with Ncf1.
Design-based stereological analyses will be performed on Nissl-stained brain sections to obtain unbiased estimates of the volume, neuronal number, and neuronal soma size of the hippocampus and amygdala in mutant and wild-type adult mice.
By providing the first detailed quantitative characterization of these brain regions across two validated mouse models, this research will advance our understanding of the neurobiological mechanisms linking the Williams syndrome genetic deletion to its distinctive cognitive and social phenotype.
