Gamma-secretase-dependent amyloid-beta is increased in Niemann-Pick type C: a cross-sectional study.

ABSTRACT:

Objective

Niemann-Pick disease type C (NPC) is an inherited disorder characterized by intracellular accumulation of lipids such as cholesterol and glycosphingolipids in endosomes and lysosomes. This accumulation induces progressive degeneration of the nervous system. NPC shows some intriguing similarities with Alzheimer disease (AD), including neurofibrillary tangles, but patients with NPC generally lack amyloid-β (Aβ) plaques. Lipids affect γ-secretase-dependent amyloid precursor protein (APP) metabolism that generates Aβ in vitro, but this has been difficult to prove in vivo. Our aim was to assess the effect of altered lipid constituents in neuronal membranes on amyloidogenic APP processing in humans.

Methods

We examined Aβ in CSF from patients with NPC (n = 38) and contro

SUBMITTER: Mattsson N 

PROVIDER: S-EPMC3034414 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature