Molecular and biochemical analysis of inherited degernerative brain disorder

对家族性脑白质营养不良的生化和遗传学分析进行了探讨。1) Krabbe氏球状细胞白质营养不良脑损伤的发病机制。细胞毒性化合物的鉴定是通过培养皮肤成纤维细胞和神经细胞培养来确定的。在细胞中加入精神素和追逐形态特征。资料显示，精神素对线粒体膜有毒性，可能与克拉布病的发病机制有关。2)日本戈谢病基因分析。对5例日本戈谢病婴儿型和少年型患者的白细胞进行了基因分析。Pvu - II和Kpn - I酶切可通过β -葡萄糖苷酶c-DNA对戈谢病一个幼型家系的糖脑苷酶进行多态性分析。

The biochemical and genetic analysis of familial leukodystrophy have been explored.1) Pathogenesis of brain damage in Krabbe's globoid cell leukodystrophy.Identification of cytotoxic compound was determined by cultured skin fibroblasts and neuronal cell cultures. Add psychosine in the cells and chased morphological features. Data suggest that psychosine is toxic to mitochonrial membrane and may relate to the pathogenesis of Krabbe's disease.2) Gene analysis of Japanese Gaucher' disease.Gene analysis of japanese gaucher's disease was studied by leukocytes of five patients with infantile type and juvenile type of japanese Gaucher's disease. Pvu II and Kpn I digestion provided polymorphyism of glucocerebrosidase by c-DNA of beta-glucosidase in one family of juvenile type of Gaucher's disease.