(Press-News.org) This press release is available in Spanish.
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".
### END
New therapy for fragile X chromosome syndrome discovered
2013-04-10
ELSE PRESS RELEASES FROM THIS DATE:
Metagenomics used to identify organisms in outbreaks of serious infectious disease
2013-04-10
Researchers have been able to reconstruct the genome sequence of an outbreak strain of Shiga-toxigenic Escherichia coli (STEC), which caused over 50 deaths in Germany, using an approach known as metagenomics which bypasses the need for growing bacteria in the lab.
An international team coordinated by Mark Pallen, Professor of Microbial Genomics at Warwick Medical School, was able to reconstruct the genome sequence through the direct sequencing of DNA extracted from microbiologically complex samples.
The study, published in a genomics-themed issue of JAMA on 10 April, ...
1 in 5 seniors on risky meds; more in US South
2013-04-10
More than 1 in 5 seniors with Medicare Advantage plans received a prescription for a potentially harmful "high risk medication" in 2009, according to a newly published analysis by Brown University public health researchers. The questionable prescriptions were significantly more common in the Southeast region of the country, as well as among women and people living in relatively poor areas.
The demographic trends in the analysis, based on Medicare data from more than 6 million patients, suggest that differences in the rates of prescription of about 110 medications deemed ...
X-rays reveal coexisting structures in glass
2013-04-10
This press release is available in German.
The craft of glassmaking extends way back in time. It was over five-thousand years ago when mankind learned how to make glass. Even prior to this discovery, humans had been using naturally occurring glass for tool making. Despite this long and rich history and widespread use of glass, surprisingly little is known about the interplay between the mechanical properties of glasses and their inner structures. For the first time, researchers from Amsterdam University (The Netherlands) and DESY have now monitored subtle structural ...
Eating solid food early sets marmosets on path to obesity
2013-04-10
SAN ANTONIO (April 10, 2013) — Baby marmoset monkeys that began eating solid food earlier than their peers were significantly more likely to be obese at 1 year of age, scientists at The University of Texas Health Science Center San Antonio and the Smithsonian Conservation Biology Institute found.
This early life obesity resulted in metabolic damage such as insulin resistance and poor blood sugar control, a companion study showed.
Marmosets on track for obesity appeared to be more efficient in their feeding behavior. "Although all animals consumed the same amount of ...
The beat goes on: Modeling the human heart
2013-04-10
Computational models of the human heart can be very useful in studying not just the basic mechanisms of heart function, but also to analyze the heart in a diseased state, and come up with methods for diagnosis and therapy.
Dr. Natalia Trayanova's Computational Cardiology Lab at the Johns Hopkins University is doing just that—her group uses mathematical models to look at cardiac function and dysfunction, examining the mechanisms behind disorders such as cardiac arrhythmias and pump dysfunction.
In a plenary lecture at the SIAM Conference on Computational Science and ...
Effect of medication is affected by copies of genetic information
2013-04-10
The results may help to explain why certain medications have strong side effects on sperm and eggs, and why certain organisms remain unaffected by environmental changes. This is shown by studies that researchers from the University of Gothenburg, together with researchers from Norway and France, are now publishing in the journal PLOS Genetics.
All cells in our bodies contain copies of the genetic information. However, different cells contain different numbers of the complete genetic information. Normal human cells usually contain two copies of the genetic information, ...
In an economic crash, public health improves
2013-04-10
MAYWOOD, Il. – The economic crash in Cuba following the fall of the Soviet Union has provided researchers with a unique natural experiment on obesity, diabetes and heart disease.
In the early 1990s, shortages of food and gasoline forced Cubans to eat less and do more walking and cycling. Adults lost, on average, 9 to 11 pounds, and type 2 diabetes and cardiovascular disease dropped sharply.
But after the economy began a slow but steady recovery, adults gradually gained back the weight they had lost, and then some. This weight gain was accompanied by a 116 percent increase ...
Penn research shows that young children have grammar and chimpanzees don't
2013-04-10
A new study from the University of Pennsylvania has shown that children as young as 2 understand basic grammar rules when they first learn to speak and are not simply imitating adults.
The study also applied the same statistical analysis on data from one of the most famous animal language-acquisition experiments — Project Nim — and showed that Nim Chimpsky, a chimpanzee who was taught sign language over the course of many years, never grasped rules like those in a 2-year-old's grammar.
The study was conducted by Charles Yang, a professor of linguistics in the School ...
Researchers develop tool to assist areas of infectious disease outbreaks
2013-04-10
Exit-screening at 36 airports would have assessed all air travelers at risk of transporting H1N1 out of Mexico at start of 2009 pandemic
Screening at 99 per cent of the world's international airports could have been forgone with negligible missed opportunities to prevent or delay the spread of disease
Screening at just eight airports worldwide would have led to the assessment of 90 per cent of all at-risk air travelers
TORONTO, April 10, 2013—Researchers have developed a simple new tool to help governments worldwide decide whether to screen airplane passengers leaving ...
Research enables fishermen to harvest lucrative shellfish on Georges Bank
2013-04-10
Combined research efforts by scientists involved in the Gulf of Maine Toxicity (GOMTOX) project, funded by NOAA's Ecology and Oceanography of Harmful Algal Blooms (ECOHAB) program, and administered by the National Centers for Coastal Ocean Science (NCCOS), have led to enhanced understanding of toxic algal blooms on Georges Bank. This new information, coupled with an at-sea and dockside testing protocol developed through collaboration between GOMTOX and U.S. Food and Drug Administration (FDA) investigators, has allowed fishermen to harvest ocean quahogs and surf clams ...