Sparaco M, Cavallaro T, Rossi G, Rizzuto N
U.O. di Neurologia e Neuroriabilitazione, Ospedale S. Maria del Carmine, Rovereto, Italy.
Clin Neuropathol. 2000 Jul-Aug;19(4):200-7.
To detect mitochondrial lesions in the spinal cord from an autoptic case of myoclonus epilepsy with ragged-red fibers (MERRF) that harbored the A8344G mutation and was deemed to be free of pathological abnormalities in the spinal cord after conventional post-mortem examination.
Antibodies against subunits of complex III and IV of the respiratory chain were used to perform immunohistochemical analysis on cervical, thoracic and lumbar sections of the spinal cord from the case of MERRF and from controls. Immunostaining was carried out by the avidin-biotin peroxidase complex (ABC) method.
A selective decreased expression of subunit II of cytochrome c oxidase (COX-II) was found in all spinal cord sections from the patient.
The immunohistochemical demonstration of mitochondrial lesions in the spinal ventral horn cells from this case with MERRF seems to be consistent with the results of many genetic studies pointing to a high and homogeneous distribution of mutant mtDNA in different neuronal populations of patients with this disease. The use of these immunological probes in the study of mitochondrial encephalomyopathies can increase both the resolution and the specificity of morphological observations in the central nervous system (CNS).
检测一例伴有破碎红纤维的肌阵挛性癫痫（MERRF）尸检病例脊髓中的线粒体病变。该病例携带A8344G突变，经传统尸检后脊髓被认为无病理异常。
使用针对呼吸链复合体III和IV亚基的抗体，对该MERRF病例及对照的脊髓颈段、胸段和腰段切片进行免疫组织化学分析。采用抗生物素蛋白-生物素过氧化物酶复合物（ABC）法进行免疫染色。
在患者的所有脊髓切片中均发现细胞色素c氧化酶（COX-II）亚基II的表达选择性降低。
该MERRF病例脊髓腹角细胞线粒体病变的免疫组织化学证明，似乎与许多基因研究结果一致，这些研究表明该病患者不同神经元群体中突变型线粒体DNA分布高度一致。在研究线粒体脑肌病中使用这些免疫探针，可提高中枢神经系统（CNS）形态学观察的分辨率和特异性。
