Genetics

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