Pastoris O, Dossena M, Scelsi R, Savasta S, Bianchi E
Institute of Pharmacology, Faculty of Science, University of Pavia, Italy.
Eur Neurol. 1993;33(1):54-61. doi: 10.1159/000116902.
Four muscle biopsies from the quadriceps femoris muscle of children with symptoms suggesting mitochondrial encephalomyopathy were examined for morphological and biochemical differences. From a biochemical point of view, our patients showed a derangement of mitochondrial metabolism and in particular a marked deficit in the activity of cytochrome c oxidase. In all patients there was an abnormally high rise of lactate and pyruvic acid levels in blood before and after glucose loading. Results of morphological and enzyme histochemical studies showed smaller muscle fibre diameters than in normal children. Typical red ragged fibres and ultrastructural abnormalities in muscle mitochondria were present in 1 case only. Three patients showed focal changes in the distribution of some sarcoplasmic oxidative enzyme activities. The present findings suggest that the main metabolic disorder, pointed out by biochemical studies, is scarcely reflected by morphological and ultrastructural studies in the early stages of mitochondriopathies.
对4名有疑似线粒体脑肌病症状儿童的股四头肌进行肌肉活检，检查其形态学和生物化学差异。从生物化学角度来看，我们的患者表现出线粒体代谢紊乱，尤其是细胞色素c氧化酶活性明显不足。所有患者在葡萄糖负荷前后血液中乳酸和丙酮酸水平异常升高。形态学和酶组织化学研究结果显示，患者肌纤维直径比正常儿童小。仅1例患者出现典型的红色破碎纤维和肌肉线粒体超微结构异常。3例患者在一些肌浆氧化酶活性分布上出现局灶性变化。目前的研究结果表明，生物化学研究指出的主要代谢紊乱在线粒体疾病早期很难通过形态学和超微结构研究反映出来。
