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Association between mitochondria-related genes and systemic lupus erythematosus: Findings from Mendelian
Xinglan Huang1,2, Liehua Deng1, Rongguo He2
1Department of Dermatology, The First Affiliated Hospital of Jinan University, Jinan University & Jinan University Institute of Dermatology, Guangzhou, China.
Medicine
|November 20, 2025
Summary
Mitochondrial dysfunction is linked to systemic lupus erythematosus (SLE). This study found that the SPATA20 gene, influenced by epigenetic changes, may protect against SLE, offering new intervention strategies.
Area of Science:
- Genetics and Genomics
- Immunology
- Molecular Biology
Background:
- Systemic lupus erythematosus (SLE) is a severe autoimmune disease with complex pathogenesis.
- Mitochondrial dysfunction is implicated in SLE, but underlying genetic mechanisms require elucidation.
- Understanding the genetic links between mitochondria and SLE is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate the genetic associations between mitochondria-related genes and SLE using Mendelian randomization.
- To identify specific molecular characteristics (methylation, expression, protein abundance) of mitochondria-related genes linked to SLE.
- To explore the potential protective role of identified genes in SLE pathogenesis.
Main Methods:
- Utilized two-sample Mendelian randomization (TSMR) and summary-data-based Mendelian randomization (SMR) analyses.
- Employed genetic association data for SLE from IEU OPEN GWAS and mitochondria-related genes from MitoCarta 3.0.
- Analyzed summary-level data for methylation (mQTL), expression (eQTL), and protein quantitative trait loci (pQTL).
Main Results:
- Identified significant associations between molecular characteristics of mitochondria-related genes and SLE.
- SPATA20 gene's methylation, expression, and protein levels were positively correlated with SLE risk.
- Evidence suggests SPATA20 acts as a protective factor against SLE, potentially through epigenetic regulation.
Conclusions:
- The mitochondrial-related SPATA20 gene, potentially regulated by epigenetic modifications, may reduce SLE risk.
- Findings provide a genetic basis for understanding SLE pathogenesis and developing preventive strategies.
- Further research is needed to clarify the causal relationship between pQTLs and SLE for other identified genes.
Keywords:
Mendelian randomizationgene expressionmethylationmitochondrionproteinsystemic lupus erythematosusMore Related Videos
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