Leigh disease associated with a novel mitochondrial DNA ND5 mutation

Robert W. Taylor, Andrew A.M. Morris, Michael Hutchinson, Douglass M. Turnbull

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81 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)141-144
Number of pages4
JournalEuropean Journal of Human Genetics
Volume10
Issue number2
DOIs
StatePublished - 2002
Externally publishedYes

Keywords

  • Complex I
  • Heteroplasmy
  • Leigh disease
  • Mitochondrial DNA
  • Mutation

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