ENZYME REPLACEMENT THERAPY IN DISORDERS THAT AFFECT THE CENTRAL NERVOUS SYSTEM

酶替代疗法已被证明是非常有效的 1型（非神经病性）戈谢病患者。 我们 现在正在开发将有用量的酶输送到 遗传性代谢储存障碍患者的大脑。 我们有 检测了人胎盘β-半乳糖苷酶对 神经节苷脂GM 1在人广义神经节苷脂（GM 1）动物类似物中的作用 神经节苷脂沉积症使用新的脑内蛋白质输送系统。我们 还确定了葡萄糖脑苷脂酶在大脑中的分布 使用对流增强的这种酶的脑内注射。我们 表征参与葡萄糖脑苷脂酶摄取的受体 和其他酶的作用。

Enzyme replacement therapy has been shown to be extraordinarily effective for patients with Type 1 (non-neuronopathic) Gaucher's disease. We are now developing procedures to deliver useful amounts of enzymes to the brain in patients with hereditary metabolic storage disorders. We have examined the effect of human placental beta-galactosidase on the amount of ganglioside GM1 in animal analogues of human generalized (GM1) gangliosidosis using a new intracerebral protein delivery system. We are also determining the distribution of glucocerebrosidase in the brain using convection-enhanced intracerebral injection of this enzyme. We are characterizing the receptors involved in the uptake of glucocerebrosidase and other enzymes by neurons in tissue culture.