Literature DB >> 16240368

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Patrizia Amati-Bonneau1, Agnès Guichet, Aurélien Olichon, Arnaud Chevrollier, Frédérique Viala, Stéphanie Miot, Carmen Ayuso, Sylvie Odent, Catherine Arrouet, Christophe Verny, Marie-Noelle Calmels, Gilles Simard, Pascale Belenguer, Jing Wang, Jean-Luc Puel, Christian Hamel, Yves Malthièry, Dominique Bonneau, Guy Lenaers, Pascal Reynier.   

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.

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Year:  2005        PMID： 16240368     DOI： 10.1002/ana.20681

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


  48 in total

1.  OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Authors:  Tetsuya Hamahata; Takuro Fujimaki; Keiko Fujiki; Ai Miyazaki; Atsushi Mizota; Akira Murakami
Journal:  Jpn J Ophthalmol       Date:  2011-11-01       Impact factor: 2.447

Review 2.  Dominant optic atrophy.

Authors:  Guy Lenaers; Christian Hamel; Cécile Delettre; Patrizia Amati-Bonneau; Vincent Procaccio; Dominique Bonneau; Pascal Reynier; Dan Milea
Journal:  Orphanet J Rare Dis       Date:  2012-07-09       Impact factor: 4.123

3.  [Hereditary optic atrophies].

Authors:  C M Poloschek; W A Lagrèze
Journal:  Ophthalmologe       Date:  2009-09       Impact factor: 1.059

4.  A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Authors:  Maria Liguori; Antonella La Russa; Ida Manna; Virginia Andreoli; Manuela Caracciolo; Patrizia Spadafora; Rita Cittadella; Aldo Quattrone
Journal:  J Neurol       Date:  2008-01-22       Impact factor: 4.849

5.  OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.

Authors:  Stefanie Bette; Ulrike Zimmermann; Bernd Wissinger; Marlies Knipper
Journal:  Histochem Cell Biol       Date:  2007-09-08       Impact factor: 4.304

6.  Multi-system neurological disease is common in patients with OPA1 mutations.

Authors:  P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal:  Brain       Date:  2010-02-15       Impact factor: 13.501

7.  Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.

Authors:  Sha Tang; Phung Khanh Le; Stephanie Tse; Douglas C Wallace; Taosheng Huang
Journal:  PLoS One       Date:  2009-02-16       Impact factor: 3.240

8.  Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner.

Authors:  Parvin Shahrestani; Hung-Tat Leung; Phung Khanh Le; William L Pak; Stephanie Tse; Karen Ocorr; Taosheng Huang
Journal:  PLoS One       Date:  2009-08-31       Impact factor: 3.240

9.  OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Authors:  Denis Pierron; Marc Ferré; Christophe Rocher; Arnaud Chevrollier; Pascal Murail; Didier Thoraval; Patrizia Amati-Bonneau; Pascal Reynier; Thierry Letellier
Journal:  BMC Med Genet       Date:  2009-07-20       Impact factor: 2.103

10.  Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.

Authors:  Barend F T Hogewind; Ronald J E Pennings; Frans A Hol; Henricus P M Kunst; Elisabeth H Hoefsloot; Johannes R M Cruysberg; Cor W R J Cremers
Journal:  Mol Vis       Date:  2010-01-12       Impact factor: 2.367
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