A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, Bjornsson S, Stefansson H, Sulem P, Gudbjartsson D, Maloney J, Hoyte K, Gustafson A, Liu Y, Lu Y, Bhangale T, Graham RR, Huttenlocher J, Bjornsdottir G, Andreassen OA, Jönsson EG, Palotie A, Behrens TW, Magnusson OT, Kong A, Thorsteinsdottir U, Watts RJ, and Stefansson K.
A recent paper in Nature describes a coding mutation in the human APP gene near to the β-site which confers protection against amyloid peptide production (in vitro) and cognitive decline in the elderly. As mentioned in the discussion (see video here), the existence of this protective mutation suggests that either APP fragments (or perhaps intracellular Aβ aggregates) play a major role in AD pathogenesis.
Read the full article on Readcube for free here.
Nature. 2012 Aug 2;488(7409):96-9. doi: 10.1038/nature11283.
Also, see this review article for more on APP processing and AD pathogenesis:
Annu Rev Neurosci. 2011;34:185-204. doi: 10.1146/annurev-neuro-061010-113613.
Amyloid precursor protein processing and Alzheimer's disease.
O'Brien RJ, Wong PC.