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, et al.
Nature. 2012 Aug 2; 488(7409):96-9. PMID: 22801501. Abstract
Top50 Topics: 
Amyloid beta, Genetics


Submitted by Weiming Xia, PhD on

This study provides strong genetic evidence supporting the role of amyloid beta protein in Alzheimer's pathogenesis.

Submitted by Slavica Krantic, PhD on

This paper reports on the identification of A673T  mutation in the APP gene yielding protection against Alzheimer's disease and cognitive decline in nuurologically normal subjects. The paper is of outstanding importance since understanding why some individuals do not develop Alzheimer's disease even in an adverse context may be as informative as understanding why the others do.

Submitted by Amalia Bruni, MD on

In the paper the A673T mutation in the APP gene protects against Alzheimer's disease and the mutation may also slow the normal cognitive decline that occurs with age, so the authors underline the two may be mediated through the same or similar mechanisms and support the hypothesis that reducing the β-cleavage of APP may protect against the disease. Furthermore understanding why some individuals don't develop Alzheimer's disease, helps to understand mechanisms that occurs in this disease.

Submitted by Judith Miklossy, MD, PhD, DSc on

These observations fit well with the recent findings that beta amyloid belongs to the family of antimictrobial peptides