Amyloid-β_1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.

ABSTRACT:

Background

Alzheimer's disease (AD) mutations in amyloid precursor protein (APP) and presenilins (PSENs) could potentially lead to the production of longer amyloidogenic Aβ peptides. Amongst these, Aβ_1-43 is more prone to aggregation and has higher toxic properties than the long-known Aβ_1-42. However, a direct effect on Aβ_1-43 in biomaterials of individuals carrying genetic mutations in the known AD genes is yet to be determined.

Methods

N = 1431 AD patients (n = 280 early-onset (EO) and n = 1151 late-onset (LO) AD) and 809 control individuals were genetically screened for APP and PSENs. For the first time, Aβ_1-43 levels were analysed in cerebrospinal fluid (CSF) of 38 individuals carrying pathogenic or unclear rare mutations or th

SUBMITTER: Perrone F 

PROVIDER: S-EPMC7488767 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature