The cause of neuropathochemistry of inherited Neurodegeneration

遗传性神经退行性疾病的神经学表现的原因尚不清楚。在这项研究中，我们试图阐明神经障碍的可能原因，特别是在戈谢病。戈谢病的特点是由溶酶体糖脑苷酶缺乏引起的网状内皮细胞中糖脑苷的积累。戈谢病的中枢神经组织中，很少有糖脑苷的积累。糖脑苷积累程度的差异似乎是细胞类型特有的现象。因此，我们用不同的肿瘤细胞，如人类少突胶质细胞瘤细胞，人类神经母细胞瘤细胞，测试了这些发现，孔杜糖醇- b -环氧化物（CBE）是溶酶体β葡糖苷酶的有效抑制剂。将低于100ug/ml /瓶的CBE注入培养的人少突胶质细胞中，会产生显著的糖脑苷积累。同时，相同浓度的CBE能完全抑制酶活性。HOG细胞的形态学表现为异常的膜质细胞体，而人神经母细胞瘤细胞的形态学表现为异常的膜质细胞体。这些数据表明戈谢病的形态学图像在细胞之间是不同的。

The cause of neurological findings in inherited neurodegernerative disorders is unknown. In this studies, we attempt to elucidate the possible cause of neurological disorder, particularly in Gaucher disease.Gaucher disease is characterized by the accumulation of glucocerebroside in reticuloendotherial cells caused by a deficiency of lysosomal glucocerebrosidase. In central nervous tissues with Gaucher disease, there is few accumulation of glucocerebroside. The difference of the degree of accumulation of glucocerebroside seems to be cell type specific phenomenon. Therefore, we tested these finding using different tumor cells such as human oligodendroglioma cells, human neuroblastoma cells, Conduritol-B-epoxide (CBE) is a potent inhibitor for lysosomal betaglucosidase. Administration of CBE,less than 100ug/ml per bottle into cultured human oligodendroglioma cells produced significant accumulation of glucocerebroside. Simultaneously, enzyme activity was completely inhibited by administration of CBE at the same concentration. Morphological pictures shows abnormal membranous cytoplasmic body in HOG cells, whereas in human neuroblastoma cells. These data suggest the morphological picture in Gaucher disease is different from cells to cells.