PubMed · 5870621
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G Bonanni. 1965. [Gaucher's disease].. https://pubmed.ncbi.nlm.nih.gov/5870621/
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While enzyme replacement therapy for Gaucher disease has been widely used and appears to be an efficacious and safe treatment, this success should not be a reason for complacency. Other treatment strategies currently under consideration for patients with Gaucher disease include gene therapy, substrate reduction therapy and chaperone therapy. Furthermore, improvements in enzyme therapy could also have a significant clinical impact. Individuals with Gaucher disease and other lysosomal disorders will greatly benefit from continual refinement and optimization of the current therapy, as well as from the development of new treatment modalities that offer improvements in efficacy, cost, safety and availability.
The lysosomal storage disorders encompass more than 40 distinct diseases, most of which are caused by the deficient activity of a lysosomal hydrolase leading to the progressive, intralysosomal accumulation of substrates such as sphingolipids, mucopolysaccharides, and oligosaccharides. Here, we primarily focus on Gaucher disease, one of the most prevalent lysosomal storage disorders, which is caused by an impaired activity of glucocerebrosidase, resulting in the accumulation of the glycosphingolipid glucosylceramide in the lysosomes. Enzyme replacement and substrate reduction therapies have proven effective for Gaucher disease cases without central nervous system involvement. We discuss the promise of chemical chaperone therapy to complement established therapeutic strategies for Gaucher disease. Chemical chaperones are small molecules that bind to the active site of glucocerebrosidase variants stabilizing their three-dimensional structure in the endoplasmic reticulum, likely preventing their endoplasmic reticulum-associated degradation and allowing their proper trafficking to the lysosome where they can degrade accumulated substrate to effectively ameliorate Gaucher disease.
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