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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