OXIDATIVE METABOLISM IN INHERITED NEUROLOGICAL DISEASES AND IN MOLLICUTES

越来越多的证据表明， 某些遗传病患者的氧化代谢 神经系统疾病 因此，丙酮酸氧化的缺陷 系统已被证明在一些患者的乳酸血症， 弥漫性神经系统疾病，线粒体苹果酸酶， Friedreich共济失调患者，以及部分缺乏 谷氨酸脱氢酶在某些患者 橄榄体脑桥小脑变性 然而， 关于确切的酶缺陷的争议。 客观 这个项目的目的是阐明其中一些缺陷， 患者或来源于此类患者的皮肤成纤维细胞中。 为此 目的我们正在分析一些线粒体和非- 成纤维细胞或白细胞中的线粒体酶， 启动了线粒体的电子显微镜研究。 我们 对柔膜菌产生了兴趣， 柔膜菌的成纤维细胞培养物干扰了 丙酮酸脱氢酶复合物。 氧化 对柔膜菌的代谢知之甚少。 但愿 阐明这些疾病的缺陷将有助于 对患者进行诊断和治疗干预。 知识 柔膜生物的生理学特性可能有助于理解 这些生物的致病性。

An increasing amount of evidence points to a possible defect in oxidative metabolism in patients with certain inherited neurological disorders. Thus, a defect in the pyruvate oxidation system has been shown in some patients with lactic acidemia and diffuse neurologic disease, of the mitochondrial malic enzyme in patients with Friedreich's ataxia, and a partial deficiency of glutamate dehydrogenase in some patients with olivopontocerebellar degeneration. However, there is much controversy about the exact enzymatic defect(s). The objective of this project is the elucidation of the defect in some of these patients or in skin fibroblasts derived from such patients. For this purpose we are assaying a number of mitochondrial and non- mitochondrial enzymes in fibroblasts or leukocytes and we have initiated electron microscopic studies of the mitochondria. We became interested in the mollicutes because contamination of fibroblast cultures with mollicutes interfered with the assay of pyruvate dehydrogenase complex in these cells. The oxidative metabolism of mollicutes is poorly understood. Hopefully, the elucidation of the defect in these diseases will help in the diagnosis and therapeutic intervention in the patients. Knowledge of the physiology of mollicutes may help in understanding the pathogenicity of these organisms.