A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency.
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.
Chae
Jong Hee
JH
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.
Lee
Jin Sook
JS
Kim
Ki Joong
KJ
Hwang
Yong Seung
YS
Bonilla
Eduardo
E
Tanji
Kurenai
K
Hirano
Michio
M
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
D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human