J. Neurosci. Res. volume 86, issue 15, P3331-3337 2008 DOI: 10.1002/jnr.21773 View full text
Gessica Sala, Federica Trombin, Simone Beretta, Lucio Tremolizzo, Paola Presutto, Monica Montopoli, Marianna Fantin, Andrea Martinuzzi, Valerio Carelli, Carlo Ferrarese

Abstract: Leber hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss resulting from retinal ganglion cell degeneration. Despite the important role of respiratory chain deficiency and oxidative stress induced by mtDNA point mutations affecting complex I, excitotoxic injury has been postulated as a concurrent pathogenic factor. We used transmitochondrial cybrid cell lines constructed using enucleated fibroblasts from three LHON probands carrying the most severe 3460/ND1 mutation and t…

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