AI Article Synopsis
- Optic neuropathies affected an estimated 115 in 100,000 people in 2018, with Leber's Hereditary Optic Neuropathy (LHON) being a significant hereditary mitochondrial disease linked to three specific mtDNA mutations: G11778A, T14484, and G3460A.
- LHON typically shows no symptoms until severe damage to the optic nerve occurs, as these mutations lead to the absence of NADH dehydrogenase, halting ATP production and causing retinal ganglion cell death.
- Environmental factors, including smoking and alcohol use, increase the risk of LHON, while gene therapy and disease models using human induced pluripotent stem cells are being explored for potential treatment
Article Abstract
Optic neuropathies were estimated to affect 115 in 100,000 population in 2018. Leber's Hereditary Optic Neuropathy (LHON) as one of such optic neuropathy diseases that was first identified in 1871 and can be defined as a hereditary mitochondrial disease. LHON is associated with three mtDNA point mutations which are G11778A, T14484, and G3460A that affect the NADH dehydrogenase subunits of 4, 6, and 1, respectively. However, in most cases, only one point mutation is involved. Generally, in manifestation of the disease, there are no symptoms until the terminal dysfunction in the optic nerve is observed. Due to the mutations, nicotinamide adenine dinucleotide (NADH) dehydrogenase or complex I is absent and thus ATP production is stopped. This further causes the generation of reactive oxygen species and retina ganglion cells apoptosis. Aside from the mutations, there are several environmental factors such as smoking and alcohol consumption that can be pointed out as the risk factors of LHON. Nowadays, gene therapy has been intensively studied for LHON treatment. Disease models using human induced pluripotent stem cells (hiPSCs) have been utilized for LHON research.
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