Navigation Links
Cheaper, more effective treatment of type 1 Gaucher disease possible
Date:10/19/2010

Researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder in which fatty substances called glycosphingolipids accumulate in cells, resulting in liver/spleen enlargement, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.

The new findings could lead to less expensive and more effective ways to treat the disorder, which affects about 1 in 50,000 people in the general population. Those of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease, with 1 in 750 affected. The results are published in the October 18 issue of Proceedings of the National Academy of Sciences.

Treatment for Type 1 Gaucher diseasethe type that does not cause a rare and fatal neurodegenerative childhood diseaseinvolves expensive recombinant enzyme infusions every two weeks for life, which on average cost $200,000 per year. Gaucher disease symptoms are unpredictable, even among affected siblings. "In order to tailor treatment to individuals, we need an improved understanding of the disease mechanisms," said senior author of the study, Pramod Mistry, M.D., professor of pediatrics and internal medicine at Yale School of Medicine.

For almost 20 years, investigators around the world have tried and failed to develop mouse models of Type 1 Gaucher disease that replicate the human disease faithfully. Mistry and his team were able to develop a mouse model that replicates all of the features of the human disease.

It was previously thought that the disease affects only one cell type in the body called macrophages. "In our study we show that all cell types are involved and lipids that accumulate trigger abnormal signaling resulting in the malfunction of many cell types," said Mistry. "This helps explain aspects of the disease, such as osteoporosis, cancer risk, and risk of Parkinson's disease, all of which did not respond to macrophage-directed enzyme therapy. With this knowledge, we can look forward to developing treatments that are directed not only to macrophages, but to all cell types involved in the disease process."

Mistry and his team have just started enrolling patients in an international trial of a small molecule substrate inhibitorin the form of a pill, which was developed by Genzyme Corporation. "Because it is a pill and will affect all cell types, we expect it to reverse all, not just part, of the disease. Also, it should be less expensive than enzyme treatment," he said.


'/>"/>

Contact: Karen N. Peart
karen.peart@yale.edu
203-432-1326
Yale University
Source:Eurekalert  

Related biology news :

1. Tires made from trees -- better, cheaper, more fuel efficient
2. Orange peels, newspapers may lead to cheaper, cleaner ethanol fuel
3. Jefferson scientists deliver toxic genes to effectively kill pancreatic cancer cells
4. Commercial aquatic plants offer cost-effective method for treating wastewater
5. RNA molecules, delivery system improve vaccine responses, effectiveness
6. Cost-effective farm waste-to-energy technology focus of research
7. New Study Reveals the Emotional Impact and Effectiveness of Negative Campaigning
8. New study indicates smallpox vaccination effective for decades
9. Fractional dose of scarce meningitis vaccine may be effective in outbreak control
10. Flame retardants prove ineffective on fresh-cut Christmas trees
11. Flame retardants prove ineffective on fresh-cut Christmas trees
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Cheaper, more effective treatment of type 1 Gaucher disease possible
(Date:3/20/2017)... March 20, 2017 At this year,s CeBIT Chancellor ... biometrics manufacturer DERMALOG. The Chancellor came to the DERMALOG stand together with ... this year,s CeBIT partner country. At the largest German biometrics company the ... fingerprint, face and iris recognition as well as DERMALOG´s multi-biometrics system.   ... ...
(Date:3/9/2017)... Australia , March 9, 2017 4Dx ... prestigious World Lung Imaging Workshop at the University of ... was invited to deliver the latest data to world ... recognised event brings together leaders at the forefront of ... in lung imaging. "The quality of ...
(Date:3/6/2017)... Calif. , March 6, 2017 ... and sales technology, today announced Predictive Sales Coach ... for infusing actionable sales intelligence into Salesforce. This ... automatically enable their sales organizations with deep knowledge ... that allow for intelligent engagement. Predictive Sales Coach ...
Breaking Biology News(10 mins):
(Date:3/30/2017)... 2017  Jazz Pharmaceuticals plc (Nasdaq: JAZZ ... agreements with Nippon Shinyaku, Co., Ltd. for Defitelio ® ... daunorubicin liposome injection), or CPX-351, in Japan ... agreements, Nippon Shinyaku will receive exclusive rights to develop ... in return for an upfront payment to ...
(Date:3/29/2017)... ... March 29, 2017 , ... The Crohn’s & Colitis ... inflammatory bowel diseases (IBD), and ReachMD , the nation’s largest medical education ... learners. , The partnership, which launched in the fall of 2016, includes ...
(Date:3/29/2017)... 29, 2017 "Surging application of gesture control ... government are expected to drive the growth of gesture ... recognition market is expected to be worth USD 18.98 ... between 2017 and 2022. The touchless sensing market is ... growing at a CAGR of 17.44% between 2017 and ...
(Date:3/29/2017)... ... March 29, 2017 , ... ... Nerium International Mexico has been approved as an active member of the ... and protection among distributers and consumers in relationship marketing. This professional organization fosters ...
Breaking Biology Technology: