title: 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.
authors.affiliation: Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom. mb531@medschl.cam.ac.uk
authors.forename: Maria
authors.initials: M
authors.lastname: Ban
authors.forename: Joanna
authors.initials: J
authors.lastname: Elson
authors.forename: Amie
authors.initials: A
authors.lastname: Walton
authors.forename: Douglas
authors.initials: D
authors.lastname: Turnbull
authors.forename: Alastair
authors.initials: A
authors.lastname: Compston
authors.forename: Patrick
authors.initials: P
authors.lastname: Chinnery
authors.forename: Stephen
authors.initials: S
authors.lastname: Sawcer
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D016678:Genome; D005838:Genotype; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics*; D012016:Reference Values; D044465:White People / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I