METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES

总结：C型和D型尼曼匹克患者的代谢缺陷 已经证明这种疾病是由于细胞内胆固醇异常 体内平衡这些疾病中的分子损伤导致：（1） 未能下调细胞膜上的LDL受体;（2）缺乏 下调HMGCoA还原酶，胆固醇的关键酶 （3）不能上调酰基胆固醇酰基辅酶A 转移酶，催化细胞内酯化的酶 胆固醇测试已经被开发并引入医疗实践 用于诊断C型和D型尼曼-匹克病， 杂合子的鉴定以及这些杂合子的产前诊断 条件目前的重点是开发有效的治疗方法， 这种疾病的患者和阐明的分子基础， 这种新的代谢紊乱

Summary: The metabolic defect in patients with Types C and D Niemann-Pick disease has been shown to be due to abnormal intracellular cholesterol homeostasis. The molecular lesion in these disorders results in: (1) failure to down-regulate LDL receptors on cell membranes; (2) lack of down-regulation of HMGCoA reductase, a key enzyme in cholesterol biosynthesis; and (3) inability to up-regulate acyl cholesterol acyl CoA transferase, the enzyme that catalyzes the esterification of intracellular cholesterol. Tests have been developed and introduced into medical practice for the diagnosis of Types C and D Niemann-Pick disease and the identification of heterozygotes, and the prenatal diagnosis of these conditions. Current emphasis is on the development of effective therapy for patients with this disorder and the elucidation of the molecular basis of this novel metabolic disorder.