OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

被引：135

作者：

Amati-Bonneau, P

Guichet, A

Olichon, A

Chevrollier, A

Viala, F

Miot, S

Ayuso, C

Odent, S

Arrouet, C

Verny, C

Calmels, MN

Simard, G

Belenguer, P

Wang, J

Puel, JL

Hamel, C

Malthièry, Y

Bonneau, D

Lenaers, G

Reynier, P ^{[1
]}

机构：

[1] CHU Angers, INSERM, U694, Lab Biochim & Biol Mol, F-49033 Angers, France

[2] CHU Angers, Serv Genet Med, F-49033 Angers, France

[3] Univ Toulouse 3, Lab Biol Cellulaire & Mol Controle Proliferat, CNRS, UMR 5088, F-31062 Toulouse, France

[4] Ctr Hosp Univ, Serv ORL & Otoneurol, Toulouse, France

[5] Fdn Jimenez Diaz, Serv Genet, E-28040 Madrid, Spain

[6] Ctr Hosp Univ, Serv Genet Med, Rennes, France

[7] Ctr Hosp Univ, Serv Otol & Otoneurol, Lille, France

[8] Ctr Hosp Univ, Dept Neurol, Angers, France

[9] Hop St Eloi, INSERM, U583, Montpellier, France

来源：

ANNALS OF NEUROLOGY | 2005年 / 58卷 / 06期

关键词：

D O I：

10.1002/ana.20681

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：958 / 963

页数：6

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