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Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.

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.

SUBMITTER: Ban M

PROVIDER: S-EPMC2494944 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature

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Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.

Ban Maria M Elson Joanna J Walton Amie A Turnbull Douglas D Compston Alastair A Chinnery Patrick P Sawcer Stephen S

PloS one 20080806 8

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 analy ...[more]

PMID: 18682780

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