Plasma metabolomics of presymptomatic PSEN1-H163Y mutation carriers: a pilot study.

ABSTRACT:

Background and objective

PSEN1-H163Y carriers, at the presymptomatic stage, have reduced ¹⁸ FDG-PET binding in the cerebrum of the brain (Scholl et al., Neurobiol Aging 32:1388-1399, 2011). This could imply dysfunctional energy metabolism in the brain. In this study, plasma of presymptomatic PSEN1 mutation carriers was analyzed to understand associated metabolic changes.

Methods

We analyzed plasma from noncarriers (NC, n = 8) and presymptomatic PSEN1-H163Y mutation carriers (MC, n = 6) via untargeted metabolomics using gas and liquid chromatography coupled with mass spectrometry, which identified 1199 metabolites. All the metabolites were compared between MC and NC using univariate analysis, as well as correlated with the ratio of Aβ_{1-42/A β}

SUBMITTER: Natarajan K 

PROVIDER: S-EPMC7951103 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature