Investigation of the correlation between mildly deleterious mtDNA variations and the clinical progression of multiple sclerosis

Pienaar, Ilse S, Mohammed, Rean, Courtley, Rebecca, Gledson, Michael R, Reynolds, Richard, Nicholas, Richard and Elson, Joanna L (2021) Investigation of the correlation between mildly deleterious mtDNA variations and the clinical progression of multiple sclerosis. Multiple Sclerosis and Related Disorders, 53. a103055. ISSN 2211-0348

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Abstract

Background: 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.

Item Type: Article
Schools and Departments: School of Life Sciences > Neuroscience
SWORD Depositor: Mx Elements Account
Depositing User: Mx Elements Account
Date Deposited: 02 Jun 2021 07:49
Last Modified: 30 May 2022 01:00
URI: http://sro.sussex.ac.uk/id/eprint/99543

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