Featured Research

from universities, journals, and other organizations

New therapy for fragile X chromosome syndrome discovered

Date:
April 10, 2013
Source:
Basque Research
Summary:
Researchers 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.

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.

Related Articles


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."


Story Source:

The above story is based on materials provided by Basque Research. Note: Materials may be edited for content and length.


Journal Reference:

  1. Arnau Busquets-Garcia, Maria Gomis-González, Thomas Guegan, Carmen Agustín-Pavón, Antoni Pastor, Susana Mato, Alberto Pérez-Samartín, Carlos Matute, Rafael de la Torre, Mara Dierssen, Rafael Maldonado, Andrés Ozaita. Targeting the endocannabinoid system in the treatment of fragile X syndrome. Nature Medicine, 2013; DOI: 10.1038/nm.3127

Cite This Page:

Basque Research. "New therapy for fragile X chromosome syndrome discovered." ScienceDaily. ScienceDaily, 10 April 2013. <www.sciencedaily.com/releases/2013/04/130410082413.htm>.
Basque Research. (2013, April 10). New therapy for fragile X chromosome syndrome discovered. ScienceDaily. Retrieved December 19, 2014 from www.sciencedaily.com/releases/2013/04/130410082413.htm
Basque Research. "New therapy for fragile X chromosome syndrome discovered." ScienceDaily. www.sciencedaily.com/releases/2013/04/130410082413.htm (accessed December 19, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, December 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) — As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
Dads-To-Be Also Experience Hormone Changes During Pregnancy

Dads-To-Be Also Experience Hormone Changes During Pregnancy

Newsy (Dec. 18, 2014) — A study from University of Michigan researchers found that expectant fathers see a decrease in testosterone as the baby's birth draws near. Video provided by Newsy
Powered by NewsLook.com
Prenatal Exposure To Pollution Might Increase Autism Risk

Prenatal Exposure To Pollution Might Increase Autism Risk

Newsy (Dec. 18, 2014) — Harvard researchers found children whose mothers were exposed to high pollution levels in the third trimester were twice as likely to develop autism. Video provided by Newsy
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) — Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
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