OXIDATIVE METABOLISM IN INHERITED NEUROLOGICAL DISEASES AND IN MOLLICUTES

遗传性神经疾病和软体中的氧化代谢

• 批准号: 3945273
• 负责人: G CONSTANTOPOULOS
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3945273
• 关键词: Friedreich's ataxia; Mycoplasmatales; bacterial disease; electron microscopy; fibroblasts; genetic disorder; glutamate dehydrogenase; human tissue; inborn metabolism disorder; malate dehydrogenase; mitochondria; nervous system disorder; nervous system disorder diagnosis; oxidation; pyruvate dehydrogenase

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.

越来越多的证据指向一个可能的缺陷