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Genetics

Authoring team

Leber's disease is maternally inherited, being caused by mutations in the mitochondrial genome.

Of families with the disease:

  • 50% have a point mutation at nucleotide 11778 of the mitochondrial DNA, which lies in the gene for the ND4 subunit of the mitochondrial redox complex I
  • 15% have a point mutation at nucleotide 3460, which lies in the gene for the ND1 subunit of complex I
  • other documented mutations include:
    • nucleotide 15257, within a complex II gene
    • nucleotide 14484, within a complex I gene

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