Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus
Open accessAbstract
Mitochondrial dysfunction has been implicated in the pathogenesis of multiple sclerosis (MS) and systemic lupus erythematosus (SLE). This study re-investigates the roles of previously suggested candidate genes of energy metabolism (Complex I genes located in the nucleus and in the mitochondria) in patients with MS relative to ethnically matched SLE patients and healthy controls. After stringent correction for multiple testing, we reproduce the association of the mitochondrial (mt)DNA haplotype K* with MS, but reject the importance of previously suggested borderline associations with nuclear genes of Complex I. In addition, we detect the association of common variants of the mitochondrial ND2 and ATP6 genes with both MS and SLE, which raises the possibility of a shared mitochondrial genetic background of these two autoimmune diseases.
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A genetic variant of F0F1-ATP synthase is associated with the development of SLE.
“a genetic variant of F0F1–ATP synthase is associated with the development of SLE35”
From The role of mitochondria in rheumatic diseases (2022) · cites this paper as [35]
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- Authors
- Vyshkina, T., Sylvester, A., Sadiq, S., Bonilla, E., Canter, J. A., Perl, A., & Kalman, B.
- Affiliations
- Tisch MS Research Center of New York (US)
- SUNY Upstate Medical University (US)
- Venue
- Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2008-10
- Volume
- 129
- Issue
- 1
- Pages
- 31-35
- ISSN
- 1521-6616 (ISSN-L)
- PMC
- PMC2567049
- OpenAlex
- W2020515898
- Cited by
- 90
- References
- 26
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 9 · 2023: 3 · 2022: 11 · 2021: 4 · 2020: 8 · 2019: 7 · 2018: 5 · 2017: 4 · 2016: 7 · 2015: 5 · 2014: 4 · 2013: 5 · 2012: 3
- FWCI
- 1.90
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Multiple Sclerosis Society
- Syracuse University
- Lupus Research Alliance
- National Institutes of Health
- National Institute of Allergy and Infectious Diseases (R21AI061066, R01AI048079, AI 061066, AI072648, R56AI048079, AI 048079, R01AI072648)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Rheumatology › Systemic Lupus Erythematosus Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Keywords
- multiple sclerosis, systemic lupus erythematosus, mitochondrial DNA, mitochondrial dysfunction, ND2 gene, ATP6 gene, autoimmune disease genetics, energy metabolism, genetic association
- MeSH terms
- Adult, Alleles, DNA, Mitochondrial, Female, Gene Frequency, Haplotypes, Humans, Lupus Erythematosus, Systemic, Male, Middle Aged, Mitochondria, Multiple Sclerosis, NADH Dehydrogenase, Biomarkers, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Mitochondrial Proton-Translocating ATPases
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