GAUCHER'S DISEASE--BIOCHEMICAL AND CLINICAL STUDIES

戈谢病的常规或新疗法取决于广泛的 临床和基础科学知识的障碍。 许多患者 已被研究并确定了重要的并发症。 诊断 使用单克隆抗体的不同表型允许鉴定 症状前就受到神经系统影响的病例。 新陈代谢紊乱 已经描述了影响钙稳态的维生素D治疗方案， 和钙补充剂正在评估中。 基础研究工作 葡萄糖脑苷脂酶已经产生了各种各样的项目， 生物化学，细胞生物学和分子遗传学的酶的一部分， 更深远的研究。 葡萄糖脑苷脂酶作为溶酶体酶研究的模型 和蛋白质。 这一协调办法的结果表明， 结构、生物合成、合成和降解速率、溶酶体 路由、凝集素结合和酶的细胞摄取。 的改变 这些过程中的一些已经针对 基因导致疾病的不同表型。 这些信息 提供了完善酶替代方法的数据。 目前，结合这些进展的临床试验正在进行中。 其他 项目导致了隔离，表达和转移， 葡萄糖脑苷脂酶基因导致考虑基因转移 治疗戈谢病

Conventional or novel therapy for Gaucher's disease depends upon broad clinical and basic scientific knowledge of the disorder. Many patients have been studied and important complications identified. Diagnosis of different phenotypes using a monoclonal antibody permits identification of neurologically affected cases presymptomatically. A disorder metabolism affecting calcium homeostatis has been described and regimens of vitamin D and calcium supplementation are being evaluated. Basic research work on glucocerebrosidase has generated a variety of projects which address the biochemistry, cell biology, and molecular genetics of the enzyme as a part of more far-reaching studies. Glucocerebrosidase serves as a model for these studies of lysosomal enzymes and proteins. The results of this coordinated approach have revealed the structure, biosynthesis, rates of synthesis and degradation, lysosomal routing, lectin binding, and cellular uptake of the enzyme. Alterations of some of these processes have been described for several mutations of the gene resulting in different phenotypes of the disease. This information provides data from which the approach of enzyme replacement is perfected. A clinical trial incorporating these advances is currently underway. Other projects have resulted in the isolation, expression, and transfer of the gene for glucocerebrosidase leading to the consideration of gene transfer for Gaucher's disease.