Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Researchers Discover New Therapy for Fragile X Chromosome Syndrome

Published: Monday, April 15, 2013
Last Updated: Monday, April 15, 2013
Bookmark and Share
Researchers at the University of the Basque Country (UPV/EHU) and the Achucarro neurosciences centre have discovered a new therapy for the fragile X chromosome syndrome.

This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of the disease. “Clearly, a cure as such is not going to be achieved, as it involves a disease of genetic origin, but the fact that, by manipulating in a certain way at a cerebral level in order to obtain an improvement in the symptoms of the disease is something highly positive”, stated Ms Susana Mato, researcher at the Department of Neurosciences at the UPV/EHU and at the Achucarro centre. This scientific finding has just been published in Nature Medicine.

Fragile X chromosome syndrome (FXS) is the most frequent known cause of inherited mental retardation and disorders in the autistic range. It involves a genetic disease, with an incidence in Spain estimated at 1 in every 4,000 individuals. The syndrome arises from a deficit in the expression of the FMRP protein (fragile X mental retardation protein), which plays a fundamental role in the regulation of the neuronal function. Patients with FXS present mental retardation, attention deficit, anxiety, self-harming and autistic behaviour, hyposensitivity to pain and a high rate of epileptic crises. All these anomalous neuronal expressions are regulated by the endocannabinoid system.

The research, using genetically modified mice that lacked FMRP protein and that partially reproduced the symptomatology of fragile X chromosome syndrome in humans, have shown that blocking CB1 cannabinoid receptors with the Rimonabant pharmaceutical drug normalizes cognitive alterations, sensitivity to pain and epileptic crises. This finding suggests that the administration of pharmaceutical drugs that block the function of the cerebral endocannabinoid system may well be a new strategy for treating patients with fragile X chromosome syndrome.

Rimonabant pharmaceutical drug has been on the market for some time “for the treatment of obesity”, explained Ms Mato. “Then, however, it was used in much higher doses and these high dosages gave rise to certain psychiatric problems, and this is why it was taken off the market”. Nonetheless, it involves a drug which “has been used a lot in preclinical research into the endocannabinoid system, and its action mechanism is very well established”.

The next step, Ms Mato pointed out, should be “to better characterise the action mechanism of this treatment, and test the various dosages to see what would be the optimum one to normalize the deficit. And the following stage would be the clinical trials. In fact, we believe this would be relatively feasible, because as it has already been marketed, all that preclinical stage regarding toxicity of the drug for humans has been undertaken, and it is a relatively safe pharmaceutical drug”.

Although Ms Mato considers it to be a great advance that it has been shown in animal models that “the cognitive deficit caused by the disease has been normalised to a certain extent”, she is aware that it could be that “the clinical trials do not produce such good results, as it is common for this to happen when developing therapies for psychiatric disorders”.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,100+ scientific posters on ePosters
  • More Than 4,500+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

The Colour Of Lettuce Determines The Speed Of Its Antioxidant Effect
A study by the UPV/EHU-University of the Basque Country has explored the kinetics in the Batavia, Marvel of Four Seasons and Oak Leaf lettuces.
Monday, March 30, 2015
Scientific News
The Rise of 3D Cell Culture and in vitro Model Systems for Drug Discovery and Toxicology
An overview of the current technology and the challenges and benefits over 2D cell culture models plus some of the latest advances relating to human health research.
Study Identifies How Brain Connects Memories Across Time
UCLA Neuroscientists have boost ability of aging brain to recapture links between related memories.
3-D Atomic Structure of Cholesterol Transporter
Researchers at UTSW have determined the 3-D atomic structure of a human sterol transporter that helps maintain cholesterol balance.
First Large-Scale Proteogenomic Study of Breast Cancer
The study offers understanding of potential therapeutic targets.
Can We Break the Link Between Obesity and Diabetes?
Columbia University researchers identify a key molecule involved in the development of type 2 diabetes.
Fungi – A Promising Source Of Chemical Diversity
Moulds and plants share similar ways in alkaloid biosynthesis .
How Prions Kill Neurons: New Culture System Shows Early Toxicity to Dendritic Spines
Boston University researchers have developed a cell culture system to study prions.
Great Migration and African-American genomic diversity
Study examines genetic data to analyze regional differences in ancestry.
Faster, More Efficient CRISPR Editing
UC Berkeley scientists have developed a quicker and more efficient method to alter the genes of mice with CRISPR-Cas9, simplifying a procedure growing in popularity because of the ease of using the new gene-editing tool.
Grant Supports Project To Develop Simple Test To Screen For Cervical Cancer
UCLA Engineering announces funding from Bill and Melinda Gates Foundation.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,100+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,500+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!