Skip to Main content Skip to Navigation
Journal articles

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Abstract : 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), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex I genes. Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype.
Document type :
Journal articles
Complete list of metadata
Contributor : Hervé de Villemeur Connect in order to contact the contributor
Submitted on : Wednesday, May 28, 2008 - 3:52:05 PM
Last modification on : Wednesday, October 20, 2021 - 3:19:24 AM

Links full text



Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, et al.. Hereditary optic neuropathies share a common mitochondrial coupling defect.. Annals of Neurology, Wiley, 2008, 63 (6), pp.794-8. ⟨10.1002/ana.21385⟩. ⟨hal-00282865⟩



Record views