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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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