Bile Acid Metabolism Changes in Patients with a <i>CRB1</i>-Associated Inherited Retinal Degeneration.

ABSTRACT:

Purpose

To compare the plasma metabolic profile of patients with a Crumbs homolog 1-associated inherited retinal degeneration (CRB1-IRD) with that of healthy controls (HCs).

Design

A case-control study.

Participants

A cohort of 30 Dutch patients with CRB1-IRD and 29 Dutch HCs.

Methods

The MxP Quant 500 Kit was used for measuring metabolite concentrations. We fitted a linear regression model with adjustments for age and sex based on the concentration of metabolites in micromolar (micromoles per liter) or on the sums and ratios of metabolites to determine differences between patients and controls.

Main outcome measures

Plasma concentration of 619 metabolites.

Results

Overrepresentation of pathways among metabolites associated st

SUBMITTER: Moekotte L 

PROVIDER: S-EPMC12417383 | biostudies-literature | 2025 Jul-Aug

REPOSITORIES: biostudies-literature