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OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
Author(s) -
AmatiBonneau Patrizia,
Guichet Agnès,
Olichon Aurélien,
Chevrollier Arnaud,
Viala Frédérique,
Miot Stéphanie,
Ayuso Carmen,
Odent Sylvie,
Arrouet Catherine,
Verny Christophe,
Calmels MarieNoelle,
Simard Gilles,
Belenguer Pascale,
Wang Jing,
Puel JeanLuc,
Hamel Christian,
Malthièry Yves,
Bonneau Dominique,
Lenaers Guy,
Reynier Pascal
Publication year - 2005
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.20681
Subject(s) - atrophy , sensorineural hearing loss , sensorineural deafness , medicine , audiology , mitochondrion , mutation , pathology , optic neuropathy , neuroscience , hearing loss , biology , anatomy , genetics , optic nerve , gene
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. Ann Neurol 2005