1. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
- Author
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Jean-Luc Puel, Frédérique Viala, Christian P. Hamel, Aurélien Olichon, Yves Malthièry, Arnaud Chevrollier, Dominique Bonneau, Agnès Guichet, Patrizia Amati-Bonneau, Marie-Noelle Calmels, Sylvie Odent, Carmen Ayuso, Pascal Reynier, Pascale Belenguer, Jing Wang, Catherine Arrouet, Stéphanie Miot, Gilles Simard, Christophe Verny, and Guy Lenaers
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Genotype ,Hearing loss ,Hearing Loss, Sensorineural ,Auditory neuropathy ,medicine.disease_cause ,GTP Phosphohydrolases ,Central nervous system disease ,Atrophy ,Oxygen Consumption ,Audiometry ,Cricetinae ,Optic Atrophy, Autosomal Dominant ,otorhinolaryngologic diseases ,medicine ,Animals ,Humans ,Point Mutation ,Child ,Skin ,Mutation ,medicine.diagnostic_test ,business.industry ,Point mutation ,Fibroblasts ,medicine.disease ,eye diseases ,Cochlea ,Mitochondria ,Phenotype ,Neurology ,Female ,Neurology (clinical) ,Mitochondrial optic neuropathies ,medicine.symptom ,business ,Neuroscience - Abstract
The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and deafness. Audiometry suggested that the sensorineural deafness resulted from auditory neuropathy. Skin fibroblasts showed hyperfragmentation of the mitochondrial network, decreased mitochondrial membrane potential, and adenosine triphosphate synthesis defect. In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network.
- Published
- 2005