OXIDATIVE METABOLISM IN INHERITED NEUROLOGICAL DISEASES AND IN MOLLICUTES

越来越多的证据表明...可能存在缺陷 某些遗传性疾病患者的氧化代谢 神经紊乱。因此，丙酮酸氧化的一个缺陷 在一些乳酸血症患者中已经显示出系统和 弥漫性神经系统疾病，线粒体苹果酸酶 Friedreich‘s共济失调患者，部分缺乏 部分橄榄桥小脑患者谷氨酸脱氢酶的研究 退化。然而，关于到底是什么存在很大争议。 酶缺陷症(S)。这个项目的目标是 阐明其中一些患者或皮肤的缺陷 来自此类患者的成纤维细胞。为了这个目的，我们是 检测几种线粒体和非线粒体酶 在成纤维细胞或白细胞中，我们已经启动了电子 线粒体的显微研究。我们开始对以下方面感兴趣 软体动物是因为成纤维细胞培养物受到 软肝菌对丙酮酸脱氢酶测定的干扰 在这些细胞中很复杂。软体动物的氧化代谢是 人们对此知之甚少。希望，对这一缺陷的解释 这些疾病将有助于诊断和治疗。 对患者进行干预。对人体生理学的认识 软体动物可能有助于了解这些细菌的致病性 有机体。

In 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 become 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.