Elevated circulating cell-free mitochondrial DNA in fabry disease: insights into inflammatory activation.

ABSTRACT:

Objective

This study aimed to investigate mitochondrial dysfunction and its role in the pathogenesis of Fabry disease (FD) by analyzing circulating cell-free DNA (ccf-DNA) in patients with FD.

Methods

Sixty-six FD patients and 21 healthy controls (ctrls) were enrolled. Levels of plasma mitochondrial- (ccf-mtDNA) and nuclear-derived ccf-DNA (ccf-nDNA) were quantified by quantitative reverse-transcription PCR (RT-qPCR), and 14 inflammatory cytokines were measured in treatment-naïve patients. Associations among ccf-DNA levels, cytokine profiles, disease biomarkers, and clinical markers were analyzed, with subgroup analyses stratified by sex, genotype, clinical subtype, and disease severity.

Results

Treatment-naïve patients exhibited significantly higher ccf-mtDNA (z</

SUBMITTER: Yuan Y 

PROVIDER: S-EPMC12819586 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature