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Scripps scientists find calcium channel blockers help normalize lysosomal storage disease cells
Date:2/4/2008

n many lysosomal storage diseases, mutations compromise the cellular folding of the lysosomal enzyme, subjecting it to degradation instead of proper folding and trafficking to the lysosome. There are more than 40 known lysosomal storage diseases.

The most prevalent of these is Gaucher disease, which is the most common genetic disorder affecting Jewish people of Eastern European ancestry. Patients with Gaucher disease may bruise easily due to low blood platelets, and they may have enlargement of the liver and spleen. Sometimes they experience fatigue due to anemia. The disease also causes cells in the bone marrow to become engorged with a fatty storage material, which may lead to bone lesions, weakening the skeleton, and sometimes resulting in painful fractures. In some instances, the disease also impairs the function of the lungs or the central nervous system.

Gaucher disease (named after the French dermatologist Phillipe Gaucher, who first described the condition in 1882) is caused by mutations in a person's beta-glucosidase genes, and these defects corrupt his or her beta-glucosidase enzyme. Some of these corrupted enzymes are apparently unstable because they cannot fold properly into their correct three-dimensional structure. The corrupted, mutant enzymes fail to reach the lysosome and to break down fatty glucosylceramides, which then accumulate there.

The current approaches to treating Gaucher disease (and many other lysosomal storage diseases) involve replacing the deficient enzyme and thus breaking down the accumulated substrate. Enzyme replacement therapy is an effective way to restore people to good health, but it has drawbacks. The enzyme has to be infused intravenously or through a surgically implanted catheterXusually in a doctor's officeXa process that takes several hours and must be repeated every one or two weeks. Enzyme replacement therapy is also expensive, costing between $100,000 and $750,000 per year per patient.


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Contact: Keith McKeown
kmckeown@scripps.edu
858-784-8134
Scripps Research Institute
Source:Eurekalert

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