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Inherited Optic Neuropathies
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Hui-Chen Cheng, Jared Ching, An-Guor Wang, Patrick Yu-Wai-Man
Idebenone is a synthetic, short-chain analogue of ubiquinone, which is responsible for shuttling electrons from complexes I and II directly to complex III (44–46). The current evidence indicates that a subgroup of LHON patients benefits from idebenone and there is a greater likelihood of a positive response when treatment is initiated within the first year of disease onset (44, 47). Idebenone has been approved by the European Medicine Agency (EMA) to treat LHON and the recommended dose is 300 milligrams three times per day (48). Gene therapy based on allotopic expression of wild-type MTND4 is showing promise for LHON patients carrying the m.11778 G>A mtDNA mutation who are treated within 1 year of disease onset (42, 49, 50). Mitochondrial replacement therapy has been developed to prevent the maternal transmission pathogenic mtDNA mutations, but there are concerns regarding the ethical implications and long-term health implications (42, 51). Treatment strategies for other inherited optic neuropathies besides LHON are still in the preclinical phase of development.
Recent advances in delivering RNA-based therapeutics to mitochondria
Published in Expert Opinion on Biological Therapy, 2022
Yuma Yamada, Sen Ishizuka, Manae Arai, Minako Maruyama, Hideyoshi Harashima
Mitochondrial gene therapeutic strategies using genome editing systems are summarized in Table 2. These therapeutic strategies were validated by mitochondrial delivery of a gene editing system via allotopic expression. Several strategies for the selective degradation of mutated mtDNA for mitochondrial gene therapy have been reported, and this field is becoming increasingly active. It should also be noted that there are very few reports on mitochondrial gene editing in diseased cells. Further progress in the area of mitochondrial genome editing is expected for innovative therapy via mitochondrial gene editing.