Open access
Disruption of hippocampal upstream regulators of mTOR and insulin pathways in Down syndrome with Alzheimer's disease neuropathology: Preliminary observations
Abigail J. Nordbeck
Mitchell Martá-Ariza
Henric Ek Olofsson
E. Kanshin
B. Ueberheide
Ken Jones
Bridget Sanford
E. Hamlett
Elizabeth Head
E. Mufson
Sylvia E. Perez
Thomas Wisniewski
Samuel J. Guzman
Ann-Charlotte Granholm
Medicine
Abstract
Down syndrome (DS) is caused by a complete or partial trisomy of chromosome 21, resulting in variable intellectual disabilities and a high risk for early‐onset Alzheimer's disease (DS‐AD). Dysregulation of the mammalian target of rapamycin (mTOR) and insulin (INS) signaling pathways has been reported in DS. We hypothesized that upstream alterations in these two pathways contribute to hippocampal dysfunction in DS‐AD.