MS_paper_Sussex Imperial Newcastle.pdf (183.76 kB)
Investigation of the correlation between mildly deleterious mtDNA variations and the clinical progression of multiple sclerosis
journal contribution
posted on 2023-06-09, 23:58 authored by Ilse Pienaar, Rean Mohammed, Rebecca Courtley, Michael R Gledson, Richard Reynolds, Richard Nicholas, Joanna L ElsonBackground: Evidence suggests that mitochondrial DNA (mtDNA) variation at a population level may influence susceptibility to, or the clinical progression of Multiple Sclerosis (MS). Objective: To determine if mtDNA population variation is linked to the clinical progress of MS. Methods: Using the complete mtDNA sequences of 217 MS patients, we applied the new ‘variant load’ model, designed as a framework by which to examine the role of mtDNA variation in the context of complex clinical disease. Results: No significant association was detected between mtDNA ‘variant load’ and the clinical measures of progression. Conclusion: Our results show that mtDNA population variation does not play a substantial role in the clinical progression of MS; however, modest effects and/or effects in a subgroup of patients cannot be entirely excluded as a possibility. The results further illustrate the method's applicability to other disease phenotypes, to use in conjunction with quantitative patient measures, to test for a statistical relationship between mildly deleterious mtDNA variation and disease progression.
History
Publication status
- Published
File Version
- Accepted version
Journal
Multiple Sclerosis and Related DisordersISSN
2211-0348Publisher
ElsevierExternal DOI
Volume
53Article number
a103055Department affiliated with
- Neuroscience Publications
Full text available
- Yes
Peer reviewed?
- Yes
Legacy Posted Date
2021-06-02First Open Access (FOA) Date
2022-05-30First Compliant Deposit (FCD) Date
2021-06-02Usage metrics
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