METABOLISM OF COMPLEX LIPIDS OF NERVOUS TISSUES

1.在我们对代谢异常的识别中获得的知识 在突变株BALB/c小鼠中不能酯化外源 胆固醇已扩展到对患者的全面调查 患有C型尼曼-皮克病。到目前为止，这些个体中的大多数 从而表现出胆固醇酯化的深刻缺陷 证明了这组人代谢缺陷的本质 病人。这一发现为测试的发展铺平了道路 遗传咨询和对这种人类疾病的最终治疗 新陈代谢。 2.她的工作HSS集中在使用非代谢类似物 葡萄糖脑苷来检测细胞间的处置和 胃肠道中积聚在高谢氏体内的这种脂质的排泄 疾病。这些调查所得的结果将用于 制定治疗该疾病患者的策略 除了酶替代。

1. The knowledge gained in our identification of the metabolic abnormality in the mutant strain of BALB/c mice as an inability to esterify exogenous cholesterol has been extended to a comprehensive investigation of patients with Type C Niemann-Pick disease. By far the majority of these indiviuals exhibit the profound deficiency of cholestrol esterification thus demonstrating the nature of the metabolic defect in this group of patients. This discovery paves the way for the development of test for genetic counseling and eventual therapy for this human disorder of metabolism. 2. Oher work hss centered on the use of non-metabolizable analogues of glucocerebroside to examine the intercellular disposition and gastrointestinal excretion of this lipid which accumulates in Gaucher's disease. The result obtained in these investigations will be used to develop strategies for the treatment of patients with this disorder in addition to enzyme replacement.