publication . Article . Other literature type . 2012

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

Gyda Bjornsdottir; Daniel Gudbjartsson; Augustine Kong; Erik G Jönsson; Ole A. Andreassen; Hreinn Stefansson;
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  • Published: 11 Jul 2012 Journal: Nature, volume 488, pages 96-99 (issn: 0028-0836, eissn: 1476-4687, Copyright policy)
  • Publisher: Springer Science and Business Media LLC
Abstract
A coding mutation in APP, the gene that encodes the amyloid-β precursor protein, is found to protect against Alzheimer’s disease and cognitive decline in the elderly without Alzheimer’s disease. Alzheimer's disease is characterized by the existence in the brain of amyloid plaques, which form as a consequence of proteolic cleavage of amyloid precursor protein (APP). By screening almost 2,000 genomes, Kari Stefansson and colleagues find a coding mutation in the APP gene that protects against Alzheimer's disease and cognitive decline in elderly people who lack symptoms of Alzheimer's disease. The mutation causes an approximately 40% reduction in the formation of am...
Subjects
Medical Subject Headings: mental disorders
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