Article
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Annals of neurology - 1 Jun 2008
Chevrollier Arnaud, Guillet Virginie, Loiseau Dominique, Gueguen Naïg, de Crescenzo Marie-Anne Pou, Verny Christophe, Ferre Marc, Dollfus Hélène, Odent Sylvie, Milea Dan, Goizet Cyril, Amati-Bonneau Patrizia, Procaccio Vincent, Bonneau Dominique, Reynier Pascal
Abstract excerpt
Hereditary optic neuropathies are heterogeneous diseases characterized by the degeneration of retinal ganglion cells leading to optic nerve atrophy and impairment of central vision. We found a common coupling defect of oxidative phosphorylation in fibroblasts of patients affected by autosomal dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3),...
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