Individuals with Down syndrome who survive into adulthood face the additional challenge of early-onset dementia, in which toxic amyloid plaques build up in the brain. The condition is strikingly similar to Alzheimer’s disease, and as new work led by researchers at the Lewis Katz School of Medicine at Temple University (LKSOM) shows, dementia in Down syndrome involves defects in a regulatory enzyme known as γ-secretase activating protein (GSAP), which also happens to malfunction in Alzheimer’s disease.
The study, which appeared online in the Annals of Neurology, is the first to draw a connection between GSAP hyperactivity and excess processing of the Aβ precursor protein (APP) — the protein responsible for the final formation of amyloid beta — in Down syndrome.
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From EurekAlert