title: Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis.
abstract: There is some evidence that mitochondrial genes may contribute to susceptibility to multiple sclerosis (MS), and a mitochondrial DNA-encoded peptide, the N-terminal portion of NADH-dehydrogenase subunit 1, acts as a transplantation antigen in mice. We have analysed the DNA sequence of the corresponding region of human mitochondrial DNA in 87 patients with MS, 10 with Leber's hereditary optic neuropathy in association with an MS-like illness, and 31 control subjects. This sequence appears to be highly conserved. Only three base pair changes were identified, each being found once only in one control and two patients, and these are likely to be harmless polymorphisms. There is thus no evidence that polymorphism in this region contributes to genetic susceptibility in MS.
authors.affiliation: University Department of Clinical Neurology (Neurogenetics Section), Institute of Neurology, London, UK.
authors.forename: R M
authors.initials: RM
authors.lastname: Chalmers
authors.forename: N
authors.initials: N
authors.lastname: Robertson
authors.forename: H
authors.initials: H
authors.lastname: Kellar-Wood
authors.forename: D A
authors.initials: DA
authors.lastname: Compston
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D004198:Disease Susceptibility; D005815:Genetic Code; D005820:Genetic Testing; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D051379:Mice; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology; D017386:Sequence Homology, Amino Acid
chemical_list: D004272:DNA, Mitochondrial; D015395:Histocompatibility Antigens Class I