Towards a molecular therapy for glycogen storage disease type II (Pompe disease)

被引：29

作者：

Chen, YT ^{[1
]}

Amalfitano, A ^{[1
]}

机构：

[1] Duke Univ, Med Ctr, Dept Pediat, Div Med Genet, Durham, NC 27710 USA

来源：

MOLECULAR MEDICINE TODAY | 2000年 / 6卷 / 06期

关键词：

D O I：

10.1016/S1357-4310(00)01694-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a fatal genetic muscle disorder caused by a deficiency of acid a-glucosidase, a glycogen-degrading lysosomal enzyme. Currently, there is no treatment for this fatal disorder. However, several lines of research suggest the possibility of future treatment. Enzyme replacement strategies hold the greatest hope for patients currently affected by GSD-II, but future strategies could include in vivo or ex vivo gene therapy approaches and/or mesenchymal stem cell or bone-marrow transplantation approaches. Each of the approaches might eventually be combined to further improve the overall clinical efficacy of any one treatment regimen. The lessons learned from GSD-II research will also benefit a great number of individuals affected by other genetic disorders.

引用

页码：245 / 251

页数：7

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