Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease.

ABSTRACT:

Background

Biallelic mutations in the GBA1 gene encoding glucocerebrosidase cause Gaucher's disease, whereas heterozygous carriers are at risk for Parkinson's disease (PD). Glucosylsphingosine is a clinically meaningful biomarker of Gaucher's disease but could not be assayed previously in heterozygous GBA1 carriers.

Objective

The aim of this study was to assess plasma glucosylsphingosine levels in GBA1 N370S carriers with and without PD.

Methods

Glucosylsphingosine, glucosylceramide, and four other lipids were quantified in plasma from N370S heterozygotes with (n = 20) or without (n = 20) PD, healthy controls (n = 20), idiopathic PD (n = 20), and four N370S homozygotes (positive controls; Gaucher's/PD) using quantitative ultra-performance liquid chromatography tandem

SUBMITTER: Surface M 

PROVIDER: S-EPMC8840974 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature