Navigation Links
Scripps research scientists shed light on potential treatment for Gaucher's disease
Date:5/9/2010

ng of many proteins takes place.

A Genetic Disease

Gaucher's disease is the most common genetic disease among the Ashkenazi Jewish population of Eastern European ancestry. Symptoms include bruising easily due to low blood platelets, enlargement of the liver and spleen, and 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, sometimes resulting in painful fractures. In some instances, the disease also impairs the function of the lungs or the central nervous system.

Gaucher's 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 cannot fold properly into their correct three-dimensional structure because they are unstable in the neutral pH environment of the endoplasmic reticulum. The corrupted, mutant enzymes are often degraded by a process known as endoplasmic reticulum-associated degradation, and fail to reach their destinationanother subcellular compartment called the lysosome, where they normally break down a fatty substance called glucosylceramides. When the beta-glucosidase concentration and/or enzymatic activity in the lysosome are too low, glucosylceramides accumulate, causing the symptoms of Gaucher's disease.

The current approaches for treating Gaucher's disease (and a few of the 40 or so other lysosomal storage disorders) involve replacing the deficient enzyme with an enzyme that is made using recombinant engineering and then is injected into the patient. Enzyme replacement therapy is an effective way to restore many patients to good health, but it has drawbacks. The enzyme has to be infused intravenously or through a surgically implanted catheterusually in a doctor's officea process tha
'/>"/>

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

Page: 1 2 3 4

Related biology news :

1. Scripps Research team provides groundbreaking new understanding of stem cells
2. New Scripps Research and GNF study helps explain how we can sense temperatures
3. Scripps Research scientists reveal how genetic mutations may cause type 1 diabetes
4. New nano-tool synthesized at Scripps Research Institute
5. Scripps Research scientists solve mystery of fragile stem cells
6. Scripps research team reveals how an old drug could have a new use for treating river blindness
7. Scripps Research scientists find two compounds that lay the foundation for a new class of AIDS drug
8. Scripps Research scientists create new way to screen libraries of 10 million or more compounds
9. Scripps Research team wins global race to achieve landmark synthesis of perplexing natural product
10. Scripps Florida scientists show lifeless prions capable of evolutionary change and adaptation
11. Scripps research team develops technique to determine ethnic origin of stem cell lines
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/27/2014)... pay a premium for fruits, vegetables and other foods ... claims is another matter. Now scientists studying conventional and ... sure farms are labelling their produce appropriately. Their report, ... Food Chemistry , could help prevent organic food fraud. ... Authority and the Wuerzburg University note that the demand ...
(Date:8/27/2014)... Outstanding basic research, a growing focus on ... patient care have earned the Herbert Irving Comprehensive ... (CUMC) and NewYork-Presbyterian Hospital an $18 million, five-year ... Institute (NCI). The grant renews the center,s status ... Centers in New York City and one of ...
(Date:8/27/2014)... health advocates, campaigns against trans-fats have largely succeeded ... taking aim at sugar for its potential contributions ... are still wrangling over the best way to ... an article in Chemical & Engineering News ... American Chemical Society. , In the article, Stephen ...
Breaking Biology News(10 mins):Herbert Irving Comprehensive Cancer Center awarded $18 million grant 2Herbert Irving Comprehensive Cancer Center awarded $18 million grant 3Herbert Irving Comprehensive Cancer Center awarded $18 million grant 4
... An antibacterial peptide developed by Laszlo Otvos, a ... Science and Technology, looks to be a highly-effective ... suffered by soldiers. Otvos and his collaborators ... was more effective than current antimicrobial chemotherapy measures ...
... consent before deciding whether to let researchers share their genetic ... team of investigators at Group Health Research Institute and the ... Asked," is in the September 2010 Journal of Empirical ... team,s knowledge, it is the first to ask research participants, ...
... technique using near infrared light enables scientists to look ... a new frontier in the fights against cancer and ... led by Professor Kevin Belfield, used near infrared light ... tumors deep within tissue. The probes specifically target lysosomes, ...
Cached Biology News:People want to be asked before sharing genetic data 2
(Date:8/27/2014)... , Aug. 27, 2014 Tris Pharma, ... delivery technologies, today announced that it has been selected ... & Industry Association,s 2014 Awards for Excellence ... by an independent panel of judges from SCORE (Counselors ... Award winners will be honored at a gala event ...
(Date:8/27/2014)... 27, 2014 After the boom of ... the next beverage craze is going to be the ... formulators can use Stress Relief energy pattern which can ... making of a beverage, including minerals, herbs and liquids. ... channeling that power into rapid recovery and helping to ...
(Date:8/27/2014)... NJ (PRWEB) August 27, 2014 WriteResult, ... services – has once again shown superiority when it ... sponsor by completing the ePRO portion of their most ... The Japan-based pharma chose WriteResult’s digital writing platform ... trials – the first to complete drew data from ...
(Date:8/26/2014)... , Aug. 26, 2014  NeuroSigma, Inc., a ... established to develop bioelectronic technologies, today announced that it ... the U.S. Securities and Exchange Commission relating to a ... number of shares to be offered and the price ... determined. Jefferies LLC will act as the ...
Breaking Biology Technology:Tris Pharma Selected as an award winner in the New Jersey Business & Industry Association's 2014 Awards for Excellence 2Stress Relief: 1 Way to De-Stress Your Beverage Formula 2Stress Relief: 1 Way to De-Stress Your Beverage Formula 3Stress Relief: 1 Way to De-Stress Your Beverage Formula 4A Perfect Record: WriteResult Maintains a 100% On-Time ePRO Record with Latest Irritable Bowel (IBS) Study Data Lock 2
... Genedata ... Diseases , ... June 1, 2010 -- Genedata, a leading provider of advanced software solutions for drug ... an ERA-Net-funded applied pathogenomics project, which is using systems biology to identify ...
... and BERLIN , May 31, 2010 ... in patients with IRon deficiency,and Chronic Heart Failure) study ... improve renal function in,chronic heart failure patients. Ferinject(R) is ... and iron deficiency anaemia. These,results were now presented at ...
... ... June 2nd and 3rd Live at www.BionConferenceLive.com , ... Boston, MA (Vocus) May 28, 2010 -- PlatformQ ... energy industries, and LabRoots , a free social networking site serving the scientific community, ...
Cached Biology Technology:Genedata Phylosopher Selected for ERA-NET sncRNA Project 2Genedata Phylosopher Selected for ERA-NET sncRNA Project 3Genedata Phylosopher Selected for ERA-NET sncRNA Project 4FAIR-HF Subanalysis Shows That Ferinject(R) Improves Kidney Function in Iron-Deficient Patients With Chronic Heart Failure 2FAIR-HF Subanalysis Shows That Ferinject(R) Improves Kidney Function in Iron-Deficient Patients With Chronic Heart Failure 3FAIR-HF Subanalysis Shows That Ferinject(R) Improves Kidney Function in Iron-Deficient Patients With Chronic Heart Failure 4FAIR-HF Subanalysis Shows That Ferinject(R) Improves Kidney Function in Iron-Deficient Patients With Chronic Heart Failure 5FAIR-HF Subanalysis Shows That Ferinject(R) Improves Kidney Function in Iron-Deficient Patients With Chronic Heart Failure 6Dr. David Wolf, NASA Astronaut and Inventor, to Speak at BioConference Live 2Dr. David Wolf, NASA Astronaut and Inventor, to Speak at BioConference Live 3
... fragment based screening project: , ... 96 shape-diverse mixtures of 4 (5 uL each) , ... , Individual compounds are dissolved in DMSO ... mM. Supplied in 5 96-well trays. Dilute library ...
... interferons are cytopathic effect inhibition assays, also ... The neutralization assay measures the antibody's ability ... cytokine. Sample types include; tissue culture supernatents; ... assays, one unit is defined as the ...
... G bind specifically to Fc regions of ... G conjugates are commonly used as affinity ... subtypes from serum, hybridoma ascites fluids, tissue ... reagents are also commonly used to capture ...
... SYS203 is a complete, flexible system ... small samples, as is frequently required ... designed around Instechs miniature Clark-style polarographic ... inch in diameter (3.2 mm), it ...
Biology Products: