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Page history last edited by Michael Burns 14 years, 3 months ago

Treatments for Gaucher's


          There are three major forms of treat ment for Gaucher's: Substrate Reduction Therapy, Enzyme Replacement Therapy, and Active Site-Specific Chaperones.  Substrate Reduction Therapy involves inhibiting ceramide glucosyltransferase, the enzyme within the metabolic pathway that catalyzes the production of glucocerebroside.  This can lead to low levels of ceramide in the cells, which can be harmful.  Enzyme Replacement Therapy does just what the name suggests and replaces the deffective enzyme.  This has varying rates of success and costs as much as $750,000. 

          The newest method is using Active site-specific Chaperones.  They are small enzyme inhibitors that restore the intended shape of the enzyme by binding to the active site.  However, since there are many mutations which would each require there own inhibitors, the only truly proven and tested ASSC is for N370S.  The inhibitor with the most promise is called IFG.


     IFG Bound to the Active Site of N370S mutated Glucocerebrosidase





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