To elucidate the causal relationships between mitochondrial genes and endometriosis through multiomics bioinformatics analysis and experimental validation.
Approach:
Key Findings:
Identified 128 mitochondrial genes with significant causal relationships to endometriosis.
Key pathways enriched include steroid biosynthesis, fatty acid elongation, and mitochondrial gene expression.
Five feature genes (PHYH, GPD2, C12orf65, MRPS6, RPL21) were selected, with GPD2 and MRPS6 showing predictive value (AUC > 0.6).
Mitochondrial dysfunction may contribute to endometriosis through immune modulation, particularly involving macrophages and NK cells.
Immunohistochemical validation confirmed high expression of GPD2 and MRPS6.
Interpretation:
The study highlights the role of mitochondrial genes in the pathogenesis of endometriosis, suggesting potential biomarkers and therapeutic targets.
Limitations:
The study may be limited by the availability and quality of genetic data.
Causal relationships inferred may not account for all confounding factors.
Conclusion:
This research provides a foundation for precision diagnostics and targeted therapeutic strategies for endometriosis management.
