Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) and non-genetic hypercholesterolemia (HC) are both associated with elevated low-density cholesterol (LDL-C) levels, which increase the risk of cardiovascular disease. However, their underlying metabolic disturbances differ significantly. Untargeted metabolomics offers a powerful approach for identifying disease-specific metabolic signatures and potential biomarkers, thereby contributing to precision medicine applications.

Methods

A high-resolution metabolomics analysis was performed using ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF/MS) on plasma samples from FH, HC, and healthy Saudi individuals. Differentially expressed metabolites were identified through univariat

SUBMITTER: Al Mahdi HB 

PROVIDER: S-EPMC12511148 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature