OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
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DOI：
10.1002/ana.20681
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发表时间：
2005-12-01
影响因子：
11.2
通讯作者：
Reynier, P
中科院分区：
文献类型：
--
作者：
Amati-Bonneau, P;Guichet, A;Reynier, P
在 5 名视神经萎缩和耳聋患者中发现了 OPA1 杂合 R445H 突变。听力检查提示感音神经性耳聋是由听神经病变引起的。皮肤成纤维细胞显示线粒体网络过度破碎、线粒体膜电位降低和三磷酸腺苷合成缺陷。此外，OPA1被发现在豚鼠的感觉和神经耳蜗细胞中广泛表达。因此，视神经萎缩和耳聋可能与线粒体网络碎片导致的能量缺陷有关。
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.