Featured Research

from universities, journals, and other organizations

New hope for Gaucher patients

Date:
January 19, 2014
Source:
Weizmann Institute of Science
Summary:
Scientists have discovered a new cellular pathway implicated in Gaucher disease. Their findings may offer a new therapeutic target for the management of this disease, as well as other related disorders.

This shows the elevation of RIP3 in nuclei of neurons from neuronopathic Gaucher (red; arrows) disease mice.
Credit: Weizmann Institute of Science

What causes brain damage and inflammation in severe cases of Gaucher disease? Little is known about the events that lead to brain pathology in some forms of the disease, and there is currently no treatment available -- a bleak outlook for sufferers and their families. Now, scientists at the Weizmann Institute of Science have discovered a new cellular pathway implicated in Gaucher disease. Their findings, published today in Nature Medicine, may offer a new therapeutic target for the management of this disease, as well as other related disorders.

Gaucher disease is a genetic disorder most prevalent among the Ashkenazi Jewish population. It is caused by a defect in a particular enzyme needed to break down a fatty substance, or lipid, called glucocerebroside. This results in the accumulation of glucocerebroside in various cells and organs, which prevents them from working properly. There are three subtypes of the disease: The most common form -- Type 1 -- is characterized by, among other symptoms, swelling and enlargement of the spleen and liver and disruption in the function of these organs, along with lung and bone problems. These symptoms can also affect individuals with Types 2 and 3 Gaucher disease, but what distinguishes them from Type 1 is the neurological involvement: Type 2 -- the most severe form -- causes extensive brain damage and death before two years of age, while Type 3 is a more progressive form of the disease that affects the brain, with patients often living into their early teens and adulthood.

But what exactly causes such a massive loss of nerve cells in Types 2 and 3 Gaucher disease? It has recently come to light that a certain biochemical pathway, of which a protein called RIP3 is a key player, is involved in triggering the cell death and inflammatory processes that can have severe consequences in a number of diseases. Dr. Einat Vitner and M.Sc. student Ran Salomon, in the lab of Prof. Tony Futerman of the Biological Chemistry Department, wondered whether this could also be one of the missing links in the understanding of the chain of molecular events leading to brain inflammation and nerve cell death in Gaucher disease. To find out, they induced Gaucher disease in mice possessing the RIP3 protein, as well as in mice lacking RIP3. In mice lacking the RIP3 protein, they demonstrated not only a significant improvement in motor coordination and brain pathology but also improved liver and spleen function. Their lifespan was also remarkably increased from approximately 35 days to more than 170 days.

Vitner: "These results are exciting, as they suggest a plausible new target for therapeutic intervention for all types of Gaucher disease; they have the potential, in the future, to greatly improve the patients' quality of life."

Indeed, although effective enzyme replacement therapy exists in which Gaucher patients are treated with injections of an intact version of the enzyme responsible for the normal breakdown of the lipid in healthy people, the cost of the lifelong treatment is approximately $200,000 per patient per year. Moreover, the enzyme is unable to get into the brain since it cannot cross the blood-brain barrier, rendering it ineffective in treating the neurological symptoms of Types 2 and 3 Gaucher disease. Hence, more affordable and alternative treatments are urgently needed.

"If successful, the new target could be used as either a complementary or alternative therapy for Gaucher disease, and with RIP3 proving to be a 'hot' cellular pathway in various pathologies, these results may also have implications in other neurodegenerative diseases, including related diseases such as Krabbe disease, and potentially other devastating brain diseases," says Futerman.


Story Source:

The above story is based on materials provided by Weizmann Institute of Science. Note: Materials may be edited for content and length.


Journal Reference:

  1. Einat B Vitner, Ran Salomon, Tamar Farfel-Becker, Anna Meshcheriakova, Mohammad Ali, Andrιs D Klein, Frances M Platt, Timothy M Cox, Anthony H Futerman. RIPK3 as a potential therapeutic target for Gaucher's disease. Nature Medicine, 2014; DOI: 10.1038/nm.3449

Cite This Page:

Weizmann Institute of Science. "New hope for Gaucher patients." ScienceDaily. ScienceDaily, 19 January 2014. <www.sciencedaily.com/releases/2014/01/140119142448.htm>.
Weizmann Institute of Science. (2014, January 19). New hope for Gaucher patients. ScienceDaily. Retrieved October 2, 2014 from www.sciencedaily.com/releases/2014/01/140119142448.htm
Weizmann Institute of Science. "New hope for Gaucher patients." ScienceDaily. www.sciencedaily.com/releases/2014/01/140119142448.htm (accessed October 2, 2014).

Share This



More Health & Medicine News

Thursday, October 2, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pregnancy Spacing Could Have Big Impact On Autism Risks

Pregnancy Spacing Could Have Big Impact On Autism Risks

Newsy (Oct. 1, 2014) — A new study says children born less than one year and more than five years after a sibling can have an increased risk for autism. Video provided by Newsy
Powered by NewsLook.com
Robotic Hair Restoration

Robotic Hair Restoration

Ivanhoe (Oct. 1, 2014) — A new robotic procedure is changing the way we transplant hair. The ARTAS robot leaves no linear scarring and provides more natural results. Video provided by Ivanhoe
Powered by NewsLook.com
Insertable Cardiac Monitor

Insertable Cardiac Monitor

Ivanhoe (Oct. 1, 2014) — A heart monitor the size of a paperclip that can save your life. The “Reveal Linq” allows a doctor to monitor patients with A-Fib on a continuous basis for up to 3 years! Video provided by Ivanhoe
Powered by NewsLook.com
Attacking Superbugs

Attacking Superbugs

Ivanhoe (Oct. 1, 2014) — Two weapons hospitals can use to attack superbugs. Scientists in Ireland created a new gel resistant to superbugs, and a robot that can disinfect a room in minutes. Video provided by Ivanhoe
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins