Scripps scientists find calcium channel blockers help normalize lysosomal storage dis...(n many lysosomal storage diseases mutati...),Health
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.
'/>"/>
| Contact: Keith McKeown kmckeown@scripps.edu 858-784-8134 Scripps Research Institute Source:Eurekalert |
Related medicine news :
1. Scripps Research scientists shed new light on how antibodies fight HIV
2. Scripps Health Treats More Than 160 Fire Victims at Emergency Departments Across San Diego County
3. Scripps research scientists discover chemical triggers for aggression in mice
4. Scripps research scientists find new genetic mutation that halts the development of lupus
5. New prion protein discovered by Canadian scientists may offer insight into mad cow disease
6. Scientists Probe Sepsis Deadly Secrets
7. Scientists puzzled by severe allergic reaction to cancer drug in the middle Southern US
8. Scientists Develop Natural Protection for Stored Foods
9. Scientists detect presence of marburg virus in african fruit bats
10. Scientists Spot Brains Free Will Center
11. Scientists ID Likely Culprit in Popcorn Lung
| Copyright © 2003-2009 Bio-Medicine. All rights reserved. ABOUT | CONTACT US | DISCLAIMER | PRIVACY POLICY | TERMS AND CONDITIONS |  |