Sparaco M, Schon E A, DiMauro S, Bonilla E
Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, N.Y. 10032, USA.
Brain Pathol. 1995 Apr;5(2):125-33. doi: 10.1111/j.1750-3639.1995.tb00586.x.
Myoclonic epilepsy with ragged-red fibers (MERRF) is a maternally inherited disorder of oxidative phosphorylation due to specific point mutations within the mitochondrial tRNA(Lys) gene. 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 patient.
肌阵挛性癫痫伴破碎红纤维病（MERRF）是一种由于线粒体tRNA（Lys）基因内特定点突变导致的母系遗传性氧化磷酸化疾病。MERRF患者中枢神经系统（CNS）中的线粒体功能障碍是该疾病神经学表现的原因。使用针对呼吸链复合体I、III、IV和V亚基的抗体来研究这些蛋白质在一名MERRF尸检病例的额叶皮质、小脑和延髓中的表达。我们发现在这些区域细胞色素c氧化酶（COX-II）亚基II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为广泛，并且使得尝试解释患者的神经症状成为可能。
