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Activating Drug Discovery For Gaucher Disease

 
  January, 4 2007 0:26
your information resource in human molecular genetics
 
     
Scientists have identified a new structural form of the protein that is mutated in Gaucher disease, providing important information on how the disease may be treated, according to a paper to be published in the February 2007 issue of Nature Chemical Biology.

Gaucher disease arises from the inability of cells to hydrolyze a particular lipid, leading to liver dysfunction among other serious problems. One emerging treatment for this disease is enzyme enhancement therapy, in which helper small molecules assist a disabled protein in performing its normal function. The success in identifying the appropriate helper molecules, however, depends on knowing what the enzyme looks like.

Petsko and colleagues have discovered that the enzyme acid-beta-glucosidase, mutations of which directly cause Gaucher disease, can exist in two different states. The 'inactive' structure had already been seen, but was not useful in designing new treatments. The authors now report the 'active' structure of the enzyme which is needed for cells to function normally. Gaucher disease is a serious disorder that needs improved treatments. By knowing what the active form of the enzyme looks like, scientists will be able to design molecules that help this protein more effectively.

Author contact:

Gregory A. Petsko (Brandeis University, Waltham, MA, USA)
E-mail: petsko@brandeis.edu

Abstract available online.

(C) Nature Chemical Biology press release.


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