Open AccessLeber Hereditary Optic Neuropathy—Light at the End of the Tunnel?
Author(s) -
Ungsoo Kim,
Neringa Jurkutė,
Patrick YuWaiMan
Publication year - 2019
Publication title -
asia-pacific journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.163
H-Index - 20
ISSN - 2162-0989
DOI - 10.22608/apo.2018293
Subject(s) - mitochondrial dna , optic neuropathy , mitochondrial disease , point mutation , mitochondrial respiratory chain , oxidative phosphorylation , mitochondrion , leber's hereditary optic neuropathy , adenosine triphosphate , genetics , human mitochondrial genetics , blindness , biology , oxidative damage , respiratory chain , medicine , mutation , gene , neuroscience , oxidative stress , optic nerve , biochemistry , optometry
Leber hereditary optic neuropathy (LHON) is an important cause of mitochondrial blindness. The majority of patients harbor one of three mitochondrial DNA (mtDNA) point mutations, m.3460G>A, m.11778G>A, and m.14484T>C, which all affect complex I subunits of the mitochondrial respiratory chain. The loss of retinal ganglion cells in LHON is thought to arise from a combination of impaired mitochondrial oxidative phosphorylation resulting in decreased adenosine triphosphate (ATP) production and increased levels of reactive oxygen species. Treatment options for LHON remain limited, but major advances in mitochondrial neuroprotection, gene therapy, and the prevention of transmission of pathogenic mtDNA mutations will hopefully translate into tangible benefits for patients affected by this condition and their families.