Alzheimer disease: Mutation in APP protects against Alzheimer disease

RESEARCH HIGHLIGHTS

Nature Reviews Neurology 8, 473 (2012); published online 7 August 2012; doi:10.1038/nrneurol.2012.158;doi:10.1038/nrneurol.2012.159;doi:10.1038/nrneurol.2012.160;doi:10.1038/nrneurol.2012.161

IN BRIEF

ALZHEIMER DISEASE

Mutation in APP protects against Alzheimer diseaseIn a whole-genome sequencing study of 1,795 Icelandic people, researchers have identified a coding variant in amyloid- (A) precursor protein (APP) that protects against

Alzheimer disease (AD) and cognitive decline. The A673T substitution occurs close to the target site of BACE1, the APP-cleaving enzyme that generates toxic A fragments.

The mutation leads to reduced production of A by BACE1, and provides proof of principle for the hypothesis that blocking BACE1 cleavage of APP protects against AD.

Original article Jonsson, T. etal. A mutation in APP protects...