title: OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
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.
authors.affiliation: INSERM U694, Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Universitaire, F-49033 Angers, France.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Amati-Bonneau
authors.forename: Agnès
authors.initials: A
authors.lastname: Guichet
authors.forename: Aurélien
authors.initials: A
authors.lastname: Olichon
authors.forename: Arnaud
authors.initials: A
authors.lastname: Chevrollier
authors.forename: Frédérique
authors.initials: F
authors.lastname: Viala
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Miot
authors.forename: Carmen
authors.initials: C
authors.lastname: Ayuso
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Catherine
authors.initials: C
authors.lastname: Arrouet
authors.forename: Christophe
authors.initials: C
authors.lastname: Verny
authors.forename: Marie-Noelle
authors.initials: MN
authors.lastname: Calmels
authors.forename: Gilles
authors.initials: G
authors.lastname: Simard
authors.forename: Pascale
authors.initials: P
authors.lastname: Belenguer
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Puel
authors.forename: Christian
authors.initials: C
authors.lastname: Hamel
authors.forename: Yves
authors.initials: Y
authors.lastname: Malthièry
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Guy
authors.initials: G
authors.lastname: Lenaers
authors.forename: Pascal
authors.initials: P
authors.lastname: Reynier
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D001299:Audiometry; D002648:Child; D003051:Cochlea / Q000378:metabolism; D006224:Cricetinae; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D020558:GTP Phosphohydrolases / Q000235:genetics*; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics* / Q000378:metabolism; D010101:Oxygen Consumption; D010641:Phenotype; D017354:Point Mutation; D012867:Skin / Q000166:cytology
chemical_list: D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human