METABOLISM OF CHOLESTANOL AND CHOLESTEROL IN MAN

这项研究的目的是检测胆固醇和胆甾醇。 脑腱黄瘤病患者的代谢 动脉粥样硬化和胆结石。特别是，我们将继续定义 罕见遗传性脂肪储存的临床和生化异常 疾病，环磷酰胺。在环磷酰胺中，胆汁酸合成缺陷会导致过量 胆固醇和胆甾醇的产生和组织积累。一位少校 目的是抑制异常的胆汁酸合成途径 鹅去氧胆酸的临床及生化变化评价 疾病的病程。进一步探讨了胆甾醇的形成部位及其 监管将受到调查。此外，侧链的途径 将检查胆固醇氧化为胆汁酸，以确定 侧链的断裂是通过26-或25-羟基的衍生物进行的。 在其他实验中，植物甾醇(菜籽甾醇和菜籽醇)的代谢 谷甾醇)和胆固醇将在谷固醇血症中用 黄瘤病，一种新发现的植物脂肪堆积病 固醇(菜籽醇和谷甾醇)与胆固醇一起在体内积累 身体。我们打算通过测量谷甾醇和胆固醇的周转率 同位素动力学方法，谷甾醇转化为胆汁酸和 评估肠道对谷甾醇和胆固醇的吸收 不依赖于粪便平衡的血浆双同位素比值法 测量。

The aim of this investigation is to examine cholesterol and cholestanol metabolism in patients with cerebrotendinous xanthomatosis (CTX), atherosclerosis and gallstones. Specially we shall continue to define the clinical and biochemical abnormalities in the rare inherited lipid storage diseases, CTX. In CTX, a defect in bile acid synthesis leads to excessive production and tissue accumulation of cholesterol and cholestanol. A major goal is to suppress the abnormal bile acid synthetic pathway with chenodeoxycholic acid and evaluate changes in the clinical and biochemical course of the disease. Further the site of cholestanol formation and its regulation will be investigated. In addition, the pathway of side chain oxidation of cholesterol to bile acid will be examined to determine whether the side chain cleavage proceeds via 26- or 25-hydroxylated derivatives. In other experiments, the metabolism of plant sterols (campesterol and sitosterol) and cholesterol will be evaluated in sitosterolemia with xanthomatosis, a newly discovered lipid storage disease in which plant sterols (campesterol and sitosterol) along with cholesterol accumulate in the body. We intend to measure sitosterol and cholesterol turnover by the isotope kinetic method, conversion of sitosterol to bile acids and to assess the intestinal absorption of both sitosterol and cholesterol by the plasma dual isotope ratio method, which is not dependent on fecal balance measurements.