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

Autor: Joanna L. Elson, Rebecca Courtley, Richard Nicholas, Richard Reynolds, Michael R. Gledson, Ilse S. Pienaar, Rean Mohammed
Rok vydání: 2020
Předmět:
Zdroj: Multiple sclerosis and related disorders. 53
ISSN: 2211-0356
2211-0348
Popis: Background: Evidence suggests that mitochondrial DNA (mtDNA) variation at a population level may influence susceptibility to, or the clinical progression of Multiple Sclerosis (MS).\ud \ud Objective: To determine if mtDNA population variation is linked to the clinical progress of MS.\ud \ud 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.\ud \ud Results: No significant association was detected between mtDNA ‘variant load’ and the clinical measures of progression.\ud \ud 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.
Databáze: OpenAIRE
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