Hereditary optic neuropathies share a common mitochondrial coupling defect.
Ann Neurol.. 2008-06-01; 63(6): 794-798
DOI: 10.1002/ana.21385
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1. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385.
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Chevrollier A(1), Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C,
Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V,
Bonneau D, Reynier P.
Author information:
(1)Institut National de la Santé et de la Recherche Médicale, U694, Départment de
Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.
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.
DOI: 10.1002/ana.21385
PMID: 18496845 [Indexed for MEDLINE]