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中国临床药理学与治疗学 ›› 2002, Vol. 7 ›› Issue (2): 181-183.

• 综述与讲座 • 上一篇    下一篇

戈谢氏病基因治疗的新进展

王洁, 殷彩玲1   

  1. 匹兹堡大学人类遗传学系, 1神经学系, 匹兹堡 15261, 宾州, 美国
  • 收稿日期:2001-09-15 修回日期:2001-10-08 出版日期:2002-04-26 发布日期:2020-11-27
  • 通讯作者: 王洁, 男, 博士后, 主要从事神经药理及基因治疗学研究。Tel:001-412-6871327 Email:jiewang@pitt.edu

Advance in the genetherapy of Gaucher' s disease

WANG Jie, YIN Cai-Ling   

  1. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, 15261 ,USA
  • Received:2001-09-15 Revised:2001-10-08 Online:2002-04-26 Published:2020-11-27

摘要: 戈谢氏病是一种常染色体隐性遗传病, 因编码葡萄糖脑苷脂酶(GC 酶)的结构基因突变, 导致该酶的缺乏, 底物堆积在溶酶体中, 形成溶酶体沉积性疾病。本病常规疗法尚无良策。本文简要地介绍戈谢氏病的不同表现型, 病理生理学特性和常用的治疗措施, 着重叙述基因治疗部分。从细胞到整体, 从动物到人, 戈谢氏病的基因治疗已取得长足进步, 显示出诱人前景。

关键词: 戈谢氏病, 葡萄糖脑苷脂酶, 酶补充疗法基因治疗

Abstract: Gaucher disease is a commonly inherited, autosomtic recessive lysosomal storage disorder, due to the mutation of structure gene encoding beta-glucocerebrosidase (GC)resulted in the deficiency of the enzyme .Besides enzyme replacement, there is no good ways to treat it .This review briefly introduced the phenotypes, pathologic physiology and general therapy to the disease, strongly stress the genetherapy .From animals to human, from in vitro to in vivo, the review detaily descibe the rapid progress made in genetherapy of Gaucher disease .

Key words: Gaucher disease, glucocerebrosidase (GC), enzyme replacement therapy, genetherapy

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