A mitochondrial disease.

Form of blindness that strikes in midlife

Mutations in the NADH-Q oxidoreductase (Complex I of the ETC)

Human Mt. DNA (maternally inherited) is circular around 16.6kB in humans

Mitochondrial myopaties may arise due to mutations in Mt. DNA

Leber's Hereditary Optic Neuropathy is a bilateral loss of central vision as a result of neuroretinal degeneration

There is a mutation in Complex I (subunit four – arg to his)

Mitochondrial genome contains 37 genes: 2 rRNA, 22 tRNA, and 13 proteins.