The effects of different familial Alzheimer's disease mutations on APP processing in vivo.

ABSTRACT:

Background

Disturbed amyloid precursor protein (APP) processing is considered to be central to the pathogenesis of Alzheimer's disease (AD). The autosomal dominant form of the disease, familial AD (FAD), may serve as a model for the sporadic form of AD. In FAD the diagnosis of AD is reliable and presymptomatic individuals carrying FAD mutations can give valuable insights into the earliest stages of the disease where therapeutic interventions are thought to be the most effective.

Methods

In the current cross-sectional study, products of APP processing (e.g., sAPPα, sAPPβ, Aβ₃₈, Aβ₄₀ and Aβ₄₂) were measured in the cerebrospinal fluid (CSF) of individuals carrying one of three FAD mutations, APPswe (p.KM670/671NL), APParc (p.E693G) and PSEN1 (p.

SUBMITTER: Thordardottir S 

PROVIDER: S-EPMC5312523 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature