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

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 suggest 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. Results do not exclude the possibility of detecting an association between variation and more strictly quantified variables obtained from histopathologically-stained specimens. The results further illustrate the method's applicabilityto other disease phenotypes.

• Authors: Ilse S Pienaar, Rean Mohammed, Rebecca Courtley, Michael R Gledson, Richard Reynolds, Richard Nicholas, Joanna L Elson
• Journal: Multiple sclerosis and related disorders (Mult Scler Relat Disord) Vol. 53 Pg. 103055 (Aug 2021) ISSN: 2211-0356 [Electronic] Netherlands
• PMID: 34119746 (Publication Type: Journal Article)
• Copyright: Copyright © 2021. Published by Elsevier B.V.

Chemical References

• DNA, Mitochondrial

Topics

• DNA, Mitochondrial (genetics)
• Haplotypes
• Humans
• Multiple Sclerosis (genetics)