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
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