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 |
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Rok vydání: | 2020 |
Předmět: |
Genetics
Mitochondrial DNA Multiple Sclerosis business.industry Multiple sclerosis Population variation Context (language use) General Medicine medicine.disease Clinical disease DNA Mitochondrial Haplogroup Correlation 03 medical and health sciences 0302 clinical medicine Neurology Haplotypes medicine Humans 030212 general & internal medicine Neurology (clinical) business 030217 neurology & neurosurgery Clinical progression |
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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