Leigh disease associated with a novel mitochondrial DNA ND5 mutation

Eur J Hum Genet. 2002 Feb;10(2):141-4. doi: 10.1038/sj.ejhg.5200773.


Leigh disease is a genetically heterogeneous, neurodegenerative disorder of childhood that is caused by defects of either the nuclear or mitochondrial genome. Here, we report the molecular genetic findings in a patient with neuropathological hallmarks of Leigh disease and complex I deficiency. Direct sequencing of the seven mitochondrial DNA (mtDNA)-encoded complex I (ND) genes revealed a novel missense mutation (T12706C) in the mitochondrial ND5 gene. The mutation is predicted to change an invariant amino acid in a highly conserved transmembrane helix of the mature polypeptide and was heteroplasmic in both skeletal muscle and cultured skin fibroblasts. The association of the T12706C ND5 mutation with a specific biochemical defect involving complex I is highly suggestive of a pathogenic role for this mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • DNA, Mitochondrial / genetics*
  • Humans
  • Leigh Disease / etiology
  • Leigh Disease / genetics*
  • Male
  • Mutation, Missense*
  • Sequence Analysis, DNA


  • DNA, Mitochondrial