Myoclonic epilepsy with ragged‐red fibers (MERRF) is a maternally inherited disorder of oxidative phos‐phorylation due to specific point mutations within the mitochondrial tRNALvsgene. Mitochondrial dysfunction in the central nervous system (CNS) of patients with MERRF accounts for the neurological manifestations of the disease. Antibodies against subunits of complex I, III, IV and V of the respiratory chain were used to study the expression of these proteins in the frontal cortex, cerebellum and medulla from an autoptic case of MERRF. We found a selective decreased expression of subunit II of cytochrome c oxidase (COX‐II) in these regions. Immunohistochemical abnormalities were more widespread than the lesions described by traditional histopathological techniques and made possible an attempt of explanation for the neurological symptoms of the pa
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机译：肌阵挛性红纤维癫痫 （MERRF） 是一种母系遗传性氧化磷酸化疾病，由线粒体 tRNALvsgene 内的特定点突变引起。MERRF 患者的中枢神经系统 （CNS） 线粒体功能障碍是该疾病的神经系统表现的原因。针对呼吸链复合物 I、III、IV 和 V 亚基的抗体用于研究这些蛋白质在额叶皮层、小脑和髓质中的表达，来自 MERRF 的自视病例。我们发现细胞色素 c 氧化酶 （COX-II） 亚基 II 在这些区域的表达选择性降低。免疫组织化学异常比传统组织病理学技术所描述的病变更广泛，并且有可能解释 PA 的神经系统症状
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