Genetically prioritized mitochondrial regulators of advanced renal failure: multi-omic Mendelian randomization and biological plausibility assessment in allograft fibrosis - PubMed
3 hours ago
- #Mitochondrial dysfunction
- #Mendelian randomization
- #Allograft fibrosis
- Applied multi-omic Mendelian randomization to link mitochondrial gene regulation with advanced renal failure using kidney transplant recipient status as a proxy phenotype.
- Prioritized eight mitochondrial candidate genes (C20orf72/MGME1, NDUFA13, MRPS18C, MTIF3, ECHDC1, MTHFD1L, QDPR, TST) through exploratory analysis despite no FDR-significant associations.
- Found experimental support for prioritized genes in human and murine models of chronic allograft fibrosis, with NDUFA13 implicated in linking mitochondrial dysfunction to fibrotic remodeling.
- Interpreted findings as hypothesis-generating due to limited sample size and proxy outcome, suggesting need for replication in larger studies.