Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Cheaper, more effective treatment of type 1 Gaucher disease possible

20.10.2010
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 disease—the type that does not cause a rare and fatal neurodegenerative childhood disease—involves 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 inhibitor—in 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.

The work of a researcher in this study was partially funded by the Yale Clinical and Translational Science Award (CTSA) grant from the National Center for Research Resources at the National Institutes of Health.

Other authors on the study include Jun Liu, Mei Yang, Timothy Nottoli, James McGrath, Dhanpat Jain, Kate Zhang, Joan Keutzer, Wei-Lein Chuang, Wajahat Z. Mehal, Hongyu Zhao, Aiping Lin, Shrikant Mane, Xuan Liu, Yuan Z. Peng, Jian H. Li, Manasi Argawal, Ling-Ling Zhu, Harry C. Blair, Lisa J. Robinson, Jameel Iqbal, Li Sun and Mone Zaidi.

Citation: PNAS doi/10.1073/pnas

Karen N. Peart | EurekAlert!
Further information:
http://www.yale.edu

More articles from Health and Medicine:

nachricht Antibiotic effective against drug-resistant bacteria in pediatric skin infections
17.02.2017 | University of California - San Diego

nachricht Tiny magnetic implant offers new drug delivery method
14.02.2017 | University of British Columbia

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Biocompatible 3-D tracking system has potential to improve robot-assisted surgery

17.02.2017 | Medical Engineering

Real-time MRI analysis powered by supercomputers

17.02.2017 | Medical Engineering

Antibiotic effective against drug-resistant bacteria in pediatric skin infections

17.02.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>