Article
Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber's hereditary optic neuropathy patient-derived fibroblasts.
Human molecular genetics - 14 Oct 2025
Xhuti Donald, Chiarot Alessandra, Minhas Mahek, Tobia Samantha, de Maat Nicoletta, Manta Katherine, Ng Sean Y, Tarnopolsky Mark A, Nederveen Joshua P
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is characterized by painless and rapidly progressive central vision loss, caused by various mutations in mitochondrial DNA, leading to a high genetic and phenotypic heterogeneity. Currently, the only approved therapy is idebenone, a CoQ10 synthetic analogue, that improved visual acuity in some LHON patients; however, results are highly variable due its dependency on...
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