HOME >> BIOLOGY >> NEWS
Weizmann institute scientists solve the 3-D structure of the enzyme involved in Gaucher disease

Rehovot, Israel -- June 2, 2003 --An interdisciplinary team of Weizmann Institute scientists has solved the three-dimensional structure of an enzyme called glucocerebrosidase. Mutations occurring in this enzyme cause Gaucher disease, a genetic illness that mainly affects Ashkenazi Jews. The Institute study, published recently in EMBO Reports, may lead to the design of effective new therapies for treating the disease.

Gaucher disease was first described in 1882 by the French physician Philippe Gaucher. It is characterized by swelling and enlargement of the spleen and liver and disruption in the function of these organs, and in rare cases it also affects the brain. In the 1920s, the disease was found to be caused by the excessive accumulation of a fatty substance, or lipid, called glucosylceramide. In the 1960s, researchers discovered that the accumulation occurs due to a defect in the glucocerebrosidase enzyme, whose function is to break down this lipid and regulate its amount. In the 1980s, the gene responsible for manufacturing the enzyme was isolated; scientists found that mutations in this gene disrupt the function of the enzyme, leading to the development of Gaucher disease.

By the early 1990s, the U.S. company Genzyme started producing the enzyme first from placenta, then by genetic engineering. Today thousands of Gaucher patients are treated by injections of the enzyme, an approach called enzyme replacement therapy, or ERT. The annual cost of the therapy per patient is approximately $100,000 to $300,000. Obviously, more affordable alternatives, such as the ones that may emerge from the Weizmann Institute study, are urgently needed.

The Institute team included Prof. Tony Futerman of the Biological Chemistry Department, Prof. Joel Sussman of the Structural Biology Department and Prof. Israel Silman of the Neurobiology Department, as well as Dr. Michal Harel, Lilly Toker and graduate student Hay Dvir.

The first step in solving th
'"/>

Contact: Alex Smith
Alex_smith@margeotes.com
212-460-0563
American Committee for the Weizmann Institute of Science
1-Jun-2003


Page: 1 2

Related biology news :

1. Weizmann scientists invention moves forward: Cancer diagnosis technique gets FDA clearance
2. Psoriasis treatment based on Weizmann Institute Research passes phase II clinical trials
3. Weizmann Institute scientists report why taste and smell differ among individuals
4. Weizmann Institute scienists find that stem cells in the bone marrow become liver cells
5. Prize to Weizmann Institute professor for landmark work in stem cell transplantation
6. New witchweed-fighting method, presented by CIMMYT and Weizmann Institute scientist
7. Weizmann Institute scientists win global competition in predicting protein-protein interactions
8. Vaccination following spinal cord injury: Innovative Weizmann Institute approach limits paralysis
9. Weizmann Institute scientists block loss of eyesight in animals with a glaucoma-like disease
10. Weizmann Institute researcher named to Israel Academy Of Sciences And Humanities
11. Weizmann Institute scientists develop a novel system for analyzing genetic data that mimics the human capacity for unsupervised learning

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:4/11/2017)... April 11, 2017 NXT-ID, Inc. (NASDAQ: ... company, announces the appointment of independent Directors Mr. Robin ... its Board of Directors, furthering the company,s corporate governance and ... Gino Pereira ... look forward to their guidance and benefiting from their considerable ...
(Date:4/5/2017)... YORK , April 5, 2017 Today ... is announcing that the server component of the HYPR ... known for providing the end-to-end security architecture that empowers ... HYPR has already secured over 15 million ... makers including manufacturers of connected home product suites and ...
(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 ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... Lithuania, announced today that they have entered into a multiyear collaboration to identify ... CRISPR researchers with additional tools for gene editing across all applications. , Under ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... the pharmaceutical and biotechnology industries to improve patient outcomes and quality of life, ... in analytical testing are being attributed to new regulatory requirements for all new ...
(Date:10/11/2017)... , ... October 11, 2017 , ... ... gene in its endogenous context, enabling overexpression experiments and avoiding the use of ... small RNA guides is transformative for performing systematic gain-of-function studies. , This ...
(Date:10/11/2017)... ... October 11, 2017 , ... ... today it will be hosting a Webinar titled, “Pathology is going digital. Is ... , on digital pathology adoption best practices and how Proscia improves lab economics ...
Breaking Biology Technology:
Cached News: