Molecular and biochemical analysis of inherited degernerative brain disorder

点击翻译按钮获取中文摘要

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.