Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility.
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.
Ban
Maria
M
Department of Clinical Neurosciences, University of Cambridge, Addenbrooke's Hospital, Cambridge, United Kingdom. mb531@medschl.cam.ac.uk
Elson
Joanna
J
Walton
Amie
A
Turnbull
Douglas
D
Compston
Alastair
A
Chinnery
Patrick
P
Sawcer
Stephen
S
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
D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I