Presence of Abnormal Amounts of Dolichols in the Urinary Sediment of Batten Disease Patients
Presence of Abnormal Amounts of Dolichols in the Urinary Sediment of Batten Disease Patients
复制标题
巴顿病患者尿沉渣中存在异常量的多羟基化合物
作者：
N. Kin;L. Wolfe
总结：首次在尿沉渣中发现了长萜醇类聚异戊二烯醇，并通过高效液相色谱法进行了定量。在晚期婴儿和青少年形式的神经元蜡样脂褐质沉积症（Batten病）中，与各种其他神经系统疾病和年龄匹配的正常受试者相比，在尿沉渣中发现C-90至C-105的长胆固醇的量大大增加。Dolichols纯化从尿沉淀中的晚期婴儿Batten病患者被证明具有光谱和化学性质相同的标准制剂的肝脏和大脑的Dolichols.Speculation：测量尿沉淀中的Dolichols可能是有价值的诊断和筛查的兄弟姐妹的Batten病。发现多萜醇存在于储存细胞体中，在脑和尿中裂开的肾小管细胞中增加，表明这些遗传性疾病中的基本生化缺陷在于涉及利用多萜醇进行糖蛋白合成的途径。
Summary: Polyisoprenols of the dolichol class have been identified in urinary sediment for the first time and quantified by a high performance liquid chromatographic method. In the late infantile and juvenile forms of Neuronal Ceroid Lipofuscinosis (Batten disease), greatly increased amounts of dolichols of C-90 to C-105 were found in the urinary sediment compared with a variety of other neurologic disorders and age-matched normal subjects. Dolichols purified from the urinary sediment of a late infantile Batten disease patient were shown to have spectroscopic and chemical properties identical to standard preparations of liver and brain dolichols.Speculation: Measurement of dolichols in the urinary sediment could be of value in diagnosis and screening of siblings of Batten disease. The discovery that dolichols are present in the storage cytosomes, are increased in both the brain and dehisced renal tubular cells in the urine suggests that the basic biochemical defect in these inherited disorders lies on pathways involved in the utilization of dolichols for glycoprotein synthesis.