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:4/3/2017)... 3, 2017  Data captured by IsoCode, ... detected a statistically significant association between the ... treatment and objective response of cancer patients ... predict whether cancer patients will respond to ... well as to improve both pre-infusion potency testing ...
(Date:3/28/2017)... The report "Video Surveillance Market ... Storage Devices), Software (Video Analytics, VMS), and Service (VSaaS, ... to 2022", published by MarketsandMarkets, the market was valued ... to reach USD 75.64 Billion by 2022, at a ... year considered for the study is 2016 and the ...
(Date:3/23/2017)... 2017 Research and Markets has announced the ... Trends - Industry Forecast to 2025" report to their offering. ... The Global ... of around 8.8% over the next decade to reach approximately $14.21 ... market estimates and forecasts for all the given segments on global ...
Breaking Biology News(10 mins):
(Date:7/17/2017)... Iowa (PRWEB) , ... July 17, 2017 , ... ... component of its long-standing innovation strategy. A website (openinnovation.pioneer.com) dedicated to ... five strategic areas – trait discovery, plant breeding, enabling technologies, biologicals and digital ...
(Date:7/14/2017)... ... 14, 2017 , ... Sonic Manufacturing Technologies is proud to ... a solar system on its roof top. “We will be independent of the ... Raab stated. The company’s proud history of social responsibility and participation in the ...
(Date:7/13/2017)... IN (PRWEB) , ... July 13, 2017 , ... Thousands ... July and August for the National Aeromodeling Championships (Nats). Pilots come to Muncie to ... try to earn spots on US teams that participate in world championships. , RC ...
(Date:7/13/2017)... ... July 13, 2017 , ... Frederick’s first and ... robust growth in the past year after an intensive restructuring. Under the leadership ... Programs and expanded its board of directors to revitalize the organization. As a ...
Breaking Biology Technology: