Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility

PLoS One. 2008 Aug 6;3(8):e2891. doi: 10.1371/journal.pone.0002891.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genome
  • Genotype
  • Humans
  • Multiple Sclerosis / genetics*
  • Reference Values
  • White People / genetics


  • DNA, Mitochondrial
  • Electron Transport Complex I