title: A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.
abstract: Mitochondrial disorders have notoriously variable clinical presentations, particularly in children. A growing number of reports describe mutations in the mitochondrial DNA (mtDNA)-encoded subunits of complex I (EC 1.6.5.3) causing early-onset encephalopathy. Here, we describe two Korean siblings with childhood-onset progressive generalized dystonia and one Korean child with strokelike episodes in infancy; all three had bilateral lesions of the basal ganglia and partial deficiencies of complex I. Analysis of their mtDNA revealed a novel heteroplasmic m.10197G>A mutation (A47T) in the ND3 (NADH dehydrogenase subunit 3) gene. This study underscores the importance of screening mtDNA-encoded respiratory chain structural genes, including ND3, in pediatric patients with unexplained encephalopathies.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Chae
authors.forename: Jin Sook
authors.initials: JS
authors.lastname: Lee
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Kurenai
authors.initials: K
authors.lastname: Tanji
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics; D001479:Basal Ganglia / Q000002:abnormalities / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human