Phosphatidylethanolamines are the Main Lipid Class Altered in Red Blood Cells from Patients with VPS13A Disease/Chorea-Acanthocytosis.

ABSTRACT:

Background

VPS13A disease is an ultra-rare disorder caused by loss of function mutations in VPS13A characterized by striatal degeneration and by red blood cell (RBC) acanthocytosis. VPS13A is a bridge-like protein mediating lipid transfer at membrane contact sites.

Objectives

To assess the lipid composition of patient-derived RBCs.

Methods

RBCs collected from 5 VPS13A disease patients and 12 control subjects were analyzed by mass spectrometry (lipidomics).

Results

While we found no significant differences in the overall lipid class level, alterations in certain species were detected: phosphatidylethanolamine species with both longer chain length and higher unsaturation were increased in VPS13A disease samples. Specific ceramide, phosphatidylcholine, and sphingo

SUBMITTER: Peikert K 

PROVIDER: S-EPMC11926492 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature