Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

Leber’s hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON mostly defined by identification three pathogenic variants in mitochondrial DNA. Idebenone widely used to treat patients, but only some them are responders treatment. In our study, we assessed maximal respiration rate (MRR) and other respiratory parameters eight fibroblast lines from subjects carrying variants. We measured also effects idebenone treatment on cell growth mtDNA amounts. Results showed fibroblasts had significantly reduced untreated conditions, no significant gain MRR after supplementation. No major toxicity toward function relevant compensatory effect terms quantity were found for at tested conditions. Our findings confirmed harboring displayed impaired respiration, regardless penetrance severity. Testing responsiveness cultured cells did not fully recapitulate vivo data. in-depth evaluation cellular good approach evaluating novel associated with needs further as potential biomarker prognosis responsiveness.