IDEBENONE: efficient food supplement at LHON, will it be in DOA as well?

Célia A. GOMES, Polytechnic University of Coimbra, Rua da Misericórdia, Lagar dos Cortiços, S. Martinho do Bispo, 3045-093Coimbra, Portugal; CNC - Center for Neuroscience and Cell Biology, Coimbra, Portugal; CIBB - Center for Innovative Biomedicine and Biotechnology, Coimbra, Portugal

Sara MARTINS, Aveiro University, DBio-Biology Department, Portugal

Rui CRUZ, Polytechnic University of Coimbra, Rua da Misericórdia, Lagar dos Cortiços, S. Martinho do Bispo, 3045-093Coimbra, Portugal; H&TRC-Health & Tecnhology Research Center, Coimbra Health School, Polytechnic University of Coimbra, Rua 5 de Outubro, 3045-043Coimbra, Portugal

Abstract
Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA) are rare hereditary optics diseases due to mutations in mitochondrial DNA that lead to mitochondrial dysfunction and posteriorly to damages in the retinal ganglion cell.
The cause of LHON is a primary mutation in the mitochondrial DNA. In 90% of the cases, LHON is caused by one out of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene. It affects mainly young adult men and is maternally transmitted.
DOA develops due to the degeneration of the optic nerve it is characterised by the loss of visual acuity, optic disc pallor, changes in the visual camp and has its beginning in childhood. In 75% of patients, the gene responsible for the disease is the OPA1 gene.
The idebenone antioxidant used in LHON is a synthetic analogue of the Q10 coenzyme, has a short lipophilic chain and counteracts the deficiency of complex I when transporting the electrons directly to complex III, promoting the production of cellular energy (ATP) and reactivating the retinal ganglion cells.
The objective of the article is to verify if the treatment with idebenone could be equally effective in DOA as verified in LHON.
Twenty-three articles were used and chosen using inclusion and exclusion criteria.
Through the analysis of the articles, it is concluded that idebenone is effective in LHON when used at the onset of the disease, but in DOA significant conclusions cannot yet be drawn. Even though idebenone has already shown benefits for this disease, more trials have to be carried out in the future and at earlier stages of the disease such as seen in LHON.

Keywords
LHON, DOA, Idebenone, Neuropathy

Cite this paper
Deise SANTOS, Célia A. GOMES, Sara MARTINS, Rui CRUZ, IDEBENONE: efficient food supplement at LHON, will it be in DOA as well? , SCIREA Journal of Clinical Medicine. Volume 9, Issue 5, October 2024 | PP. 143-160. 10.54647/cm321310

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