Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility

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Abstract

Several lines of evidence suggest that mitochondrial genetic factors may influence susceptibility to multiple sclerosis. To explore this hypothesis further, we re-sequenced the mitochondrial genome (mtDNA) from 159 patients with multiple sclerosis and completed a haplogroup analysis including a further 835 patients and 1,506 controls. A trend towards over-representation of super-haplogroup U was the only evidence for association with mtDNA that we identified in these samples. In a parallel analysis of nuclear encoded mitochondrial genes, we also found a trend towards association with the complex I gene, NDUFS2. These results add to the evidence suggesting that variation in mtDNA and nuclear encoded mitochondrial genes may contribute to disease susceptibility in multiple sclerosis.

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Ban, M., Elson, J., Walton, A., Turnbull, D., Compston, A., Chinnery, P., & Sawcer, S. (2008). Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. PLoS ONE, 3(8). https://doi.org/10.1371/journal.pone.0002891

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