A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

• Published in: Nature reviews. Neuroscience Vol. 16; no. 9; pp. 564 - 574
• Main Authors: Wiseman, Frances K, Al-Janabi, Tamara, Hardy, John, Karmiloff-Smith, Annette, Nizetic, Dean, Tybulewicz, Victor L J, Fisher, Elizabeth M C, Strydom, André
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.09.2015
• Subjects: Age; Alzheimer Disease - diagnosis; Alzheimer Disease - etiology; Alzheimer Disease - genetics; Alzheimer's disease; Amyloid beta-Peptides - genetics; Causes of; Dementia; Disease susceptibility; Down syndrome; Down Syndrome - diagnosis; Down Syndrome - genetics; Genes; Genetic aspects; Genetic Predisposition to Disease - genetics; Glycoproteins; Health aspects; Human chromosome 21; Humans; Life expectancy; Pathology; Properties; Proteins
• ISSN: 1471-003X; 1471-0048; 1469-3178
• DOI: 10.1038/nrn3983

Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.