While significantly reduced p62 level and increased LC3-II amount were confirmed in the LHON-affected (Figures 1C–1F, respectively, for the first and second pairs of LHON-affected/carrier siblings), as seen for the 3460 mutation, the LHON-carriers had an autophagy activity similar to controls, despite the presence of the homoplasmic 11778 mutation. The gene discussed is SQSTM1; the disease is Leber hereditary optic neuropathy.