Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

被引:66
作者
Meena, Naresh K. [1 ]
Raben, Nina [1 ]
机构
[1] NHLBI, Cell & Dev Biol Ctr, NIH, Bethesda, MD 20892 USA
基金
美国国家卫生研究院;
关键词
Pompe disease; lysosome; lysosomal targeting; autophagy; enzyme replacement therapy; gene therapy; muscle; satellite cells; ENZYME REPLACEMENT THERAPY; ACID-ALPHA-GLUCOSIDASE; PHASE I/II TRIAL; SKELETAL-MUSCLE; LONG-TERM; GENE-THERAPY; MOUSE MODEL; CYTOPLASMIC GLYCOGEN; EMERGING PHENOTYPE; SATELLITE CELLS;
D O I
10.3390/biom10091339
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
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic.
引用
收藏
页码:1 / 19
页数:19
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