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Hereditary optic neuropathies share a common mitochondrial coupling defect
Author(s) -
Chevrollier Arnaud,
Guillet Virginie,
Loiseau Dominique,
Gueguen Naïg,
Pou de Crescenzo MarieAnne,
Verny Christophe,
Ferre Marc,
Dollfus Hélène,
Odent Sylvie,
Milea Dan,
Goizet Cyril,
AmatiBonneau Patrizia,
Procaccio Vincent,
Bonneau Dominique,
Reynier Pascal
Publication year - 2008
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21385
Subject(s) - atrophy , optic neuropathy , optic nerve , leber's hereditary optic neuropathy , mitochondrial dna , point mutation , pathology , phenotype , medicine , mutation , biology , anatomy , genetics , gene
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. Ann Neurol 2008