A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency

Pediatr Res. 2007 May;61(5 Pt 1):622-4. doi: 10.1203/pdr.0b013e3180459f2d.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Asian Continental Ancestry Group / genetics
  • Basal Ganglia / abnormalities
  • Basal Ganglia / pathology*
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I / deficiency*
  • Electron Transport Complex I / genetics
  • Female
  • Humans
  • Infant
  • Korea
  • Male
  • Molecular Sequence Data
  • Mutation*

Substances

  • DNA, Mitochondrial
  • Electron Transport Complex I
  • MT-ND3 protein, human