Hoeffer, Charles A PHD

Down syndrome (DS) pre-disposes individuals for early-age onset Alzheimer’s disease (AD), and sleep disturbances are common sequelae in both pathologies. This relationship suggests that chronic sleep disturbance in DS could be one factor that contributes to or hastens the onset of AD. The purpose of this grant is to determine the extent that trisomy21 candidate mediators, Amyloid Precursor Protein (APP) and Regulator of calcineurin1 (RCAN1), contribute to sleep disturbances in DS, thus establishing a mechanistic link between DS and early-age onset AD.

Down syndrome (DS) pre-disposes individuals for early-age onset Alzheimer’s disease (AD). Sleep disturbances are common sequelae in both pathologies, and chronic sleep disturbance impairs cognition. This relationship suggests that chronic sleep disturbance in DS could be one factor that contributes to, or hastens onset of AD. Candidate mediators of disturbed sleep in DS that contributes to early-age onset AD is amyloid precursor protein (APP) and Regulator of calcineurin1 (RCAN1). The purpose of this administrative supplement is to determine the extent to which APP or RCAN1 overexpression contributes to sleep disturbances in DS, thus establishing a mechanistic link between DS and early-age onset AD.