title: Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
abstract: We describe a 42-year-old man who presented with a progressive history of epilepsy, stroke-like episodes, bilateral optic atrophy, and cognitive decline. Investigation of his muscle biopsy revealed a specific defect in complex I activity. Subsequent analysis of the mitochondrial genome identified a novel heteroplasmic T10191C mutation in the ND3 gene. The mutation was present at lower levels in blood from the patient and unaffected maternal relatives and is the first pathogenic mitochondrial DNA mutation in the ND3 gene to be described.
authors.affiliation: Department of Neurology, The Medical School, University of Newcastle upon Tyne, United Kingdom.
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
authors.forename: R
authors.initials: R
authors.lastname: Singh-Kler
authors.forename: C M
authors.initials: CM
authors.lastname: Hayes
authors.forename: P E
authors.initials: PE
authors.lastname: Smith
authors.forename: D M
authors.initials: DM
authors.lastname: Turnbull
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D011506:Proteins; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human