视神经萎缩相关感觉神经性耳聋中的OPA1 R445H突变  

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

作　　者：Amati-Bonneau P Guichet A Olichon A P. Reynier 邱伟庆 

机构地区：[1]INSERM U694, Laboratoire de Biochimie et Biologie Molé culaire, Centre Hospitalier Universitaire, F49033 Angers, France,Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第5期15-16,共2页Digest of the World Core Medical Journals:Clinical Neurology

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.The heterozygous R445H mutation in OPAl 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, OPAl 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.

关 键 词：感觉神经性耳聋 视神经萎缩 突变 线粒体膜电位 耳聋患者 网状结构 ATP合成 听力测试 神经病变 细胞显示 

分 类 号：R764.431[医药卫生—耳鼻咽喉科] R276.746.3[医药卫生—临床医学]