Mitochondrial Abnormalities in Ocular Diseases

本研究从基础和临床两个方面对线粒体异常在眼部疾病中的作用进行了研究，现将研究结果总结如下.制备了抗细胞色素c氧化酶V亚基的单克隆抗体。组织化学研究显示抗原在猴视网膜上的定位.猴视网膜呼吸链酶活性测定显示黄斑区呼吸链酶活性最高，与临床观察黄斑区线粒体疾病发病率较高一致.强直性肌营养不良患者的眼外肌在电镜水平和眼外肌活检的呼吸链酶活性上均存在线粒体异常.在Kearns-Sayre综合征相关视网膜变性患者的骨骼肌中发现线粒体DNA缺失。在Leber遗传性视神经病变的一个家系中，线粒体DNA的Wallace突变在SfaNI和MaeIII内切酶切割的限制性位点中得到证实。散发性视网膜色素变性患者中未发现线粒体DNA缺失.口服辅酶Q2<10>似乎改善了视网膜色素变性患者的中枢视觉功能。

Basic and clinical studies were carried out for understanding mitochondrial abnormalities in ocular disorders, and the followings are summarized results.1. A monoclinal antibody against subunit V of cytochrome c oxidase was newly prepared. Histochemical studies revealed localization of the antigen on the monkey retina.2. Assay of Activity of the respiratory chain enzymes in the monkey retina showed predominance in the macular area, conforming to the clinical observations that the macula is more involved by mitochondrial diseases.3. Mitochondrial abnormalities were shown in extraocular muscles of patients with myotonic dystrophy at the electron microscopic level and respiratory chain enzyme activities of extraocular muscle biopsies.4. Deletion of mitochondrial DNA was found in skeletal muscles from patients with Kearns-Sayre syndrome associated retinal degeneration. The Wallace mutation of mitochondrial DNA was confirmed in restriction sites for SfaNI and MaeIII endonuclease cleavages in a pedigree of Leber's hereditary optic neuropathy. Deletion of mitochondrial DNA was not found in patients with sporadic cases of isolated retinitis pigmentosa.5. Oral administration of coenzyme Q^<10> appeared to improve the central visual function in patients with retinitis pigmentosa.