Interferon signaling modulates Down syndrome-associated Alzheimer’s disease pathology in a mouse model

Summary: Individuals with Down syndrome (DS), caused by trisomy of chromosome 21 (chr21, T21), are strongly predisposed to Alzheimer’s disease (AD), due to triplication of the APP gene, with ∼100% penetrance of AD brain pathology by age 40 and variable onset of dementia thereafter. It remains unclea...

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Main Authors: Paula Araya, Brian Niemeyer, Kyndal Schade, Lauren N. Dunn, Katherine Waugh, Nicolas Busquet, Connie Brindley, Chrisstopher Brown, Caitlin Winkler, Hannah R. Lyford, Eleanor C. Britton, Michael Ludwig, Julie Siegenthaler, Matthew D. Galbraith, Joaquin M. Espinosa, Kelly D. Sullivan
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:iScience
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Online Access:http://www.sciencedirect.com/science/article/pii/S2589004225013914
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Summary:Summary: Individuals with Down syndrome (DS), caused by trisomy of chromosome 21 (chr21, T21), are strongly predisposed to Alzheimer’s disease (AD), due to triplication of the APP gene, with ∼100% penetrance of AD brain pathology by age 40 and variable onset of dementia thereafter. It remains unclear what role other triplicated genes play in the pathophysiology of DS-associated AD (DS-AD). Using mouse models of DS-AD, we demonstrate that triplication of other chr21 genes has paradoxical effects on learning and memory in DS-AD mice, exacerbating some phenotypes and attenuating others. Spatial transcriptomic analysis revealed genome-wide alterations typified by upregulation of interferon (IFN) signatures and elevated levels of disease-associated microglia with concomitant decreases in neurons in DS-AD animals. Finally, systemic treatment with a JAK inhibitor improved cognition and rescued gene expression changes in DS-AD animals, indicating that IFN may be a driver of pathophysiology in DS-AD that could be amenable to therapeutic intervention.
ISSN:2589-0042