Enzyme replacement and enhancement therapies for lysosomal diseases

被引:156
作者
Desnick, RJ [1 ]
机构
[1] NYU, Mt Sinai Sch Med, Dept Human Genet, New York, NY 10029 USA
关键词
D O I
10.1023/B:BOLI.0000031101.12838.c6
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Although first suggested by de Duve in 1964, enzyme replacement therapy (ERT) for lysosomal storage diseases did not become a reality until the early 1990s when its safety and effectiveness were demonstrated in type 1 Gaucher disease. Today, ERT is a reality for Gaucher disease, Fabry disease and mucopolysaccharidosis type I (MPS I), and clinical trials with recombinant human enzymes are ongoing in Pompe disease, MPS II and MPS VI, and are about to begin in Neimann-Pick B disease. In addition to ERT, enzyme enhancement therapy (EET) offers a novel therapeutic strategy to increase the residual function of mutant proteins. EET employs small molecules as 'pharmacological chaperones' to rescue misfolded and/or unstable mutant enzymes or proteins that have residual function. EET also offers the possibility of treating neurodegenerative lysosomal disorders since these small therapeutic molecules may cross the blood-brain barrier. The current status of ERT and the prospects for EET for lysosomal storage diseases are reviewed.
引用
收藏
页码:385 / 410
页数:26
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