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.

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Nov 17, 2015
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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.

Go to the profile of Tim Spencer

Tim Spencer

Senior Editor, Nature Neuroscience

Tim Spencer received his PhD from the City University of New York, where he studied the signaling mechanisms which underlie the promotion of axonal growth and regeneration following injury in the laboratory of Marie Filbin. He then moved to the laboratory of Chris Henderson at Columbia University, where he examined molecular markers of postnatal motor neuron maturation and elements of neurodegenerative diseases such as ALS and SMA. His research interests include neuronal development and maturation, axonal guidance and models of neuronal disease and dysfunction. Tim joined the editorial team of Nature Neuroscience in March of 2011, where he handles many of the manuscripts on neural development and neurogenesis, neurodegeneration, neuroinflammation and neuroimmune interactions, myelination/remyelination, molecular and cellular pathways, and "brain cancer" (glioblastoma, etc.).

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