The pathological mechanisms and novel therapeutics for Leber's hereditary optic neuropathy.
J Chin Med Assoc
; 86(6): 539-541, 2023 06 01.
Article
in En
| MEDLINE
| ID: mdl-37027535
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Optic Atrophy, Hereditary, Leber
/
Induced Pluripotent Stem Cells
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
J Chin Med Assoc
Journal subject:
MEDICINA
Year:
2023
Type:
Article