Researchers at Pompeu Fabra University find new treatment for fragile X syndrome
This minority disease is the most common hereditary cause of intellectual disabilities and affects one in 4,000 men and one in 6,000-8,000 women.
Núria Saladié
The Neuropharmacology Laboratory-NeuroPhar at Pompeu Fabra University (UPF) has found a new therapeutic target for fragile X syndrome (FXS): the endocannabinoid system. Specifically, scientists have seen that by blocking CB1 endocannabinoid receptors, the most common symptoms of the disease (cognitive deficiencies, hypersensitivity to pain and susceptibility to epileptic attacks) are normalized and by blocking CB2 receptors, so is anxiety. Thus, they have determined that stopping the activity of this system is a good way to alleviate the effects of FXS.
As head researcher on the study Dr. Andrés Ozaita told Biocat, thanks to available pharmacological tools to modulate the endocannabinoid system, "we can now catch a glimpse of various therapeutic approaches to treat this pathology." Moreover, he added that "it could be interesting to research whether other diseases with similar characteristics can benefit from this therapeutic approach."
The study, conducted using a mouse model, was published on 31 March in the online edition of Nature Medicine. Fragile X syndrome, according to MedlinePlus, is caused by a change in a gene called FMR1, which produces the protein needed for the brain to grow properly.
There are currently therapies in the experimental phase that, despite alleviating some of the symptoms, aren’t totally effective. This is the reason why the findings of the UPF researchers are even more significant as they bring us closer to a possible treatment for FXS. As Ozaita says, it is impossible to predict how long it will take to bring a drug based on this discovery to market, as there are many influencing factors like capital available or interest from pharmaceutical companies. Nevertheless, he explains that a point in their favor is the fact that there is "a lot of information on one of the drugs we have used, for which safety issues and possible side effects are already known."
The study was led by the UPF Neuropharmacology Laboratory-NeuroPhar and the Department of Experimental and Health Sciences (CEXS). Other collaborators included research groups at the Center for Genomic Regulation (CRG), the Hospital del Mar Medical Research Institute (IMIM) and the University of the Basque Country (UPV). The study, which received funding from the Ministry of Science and Innovation, ICREA and Tecnio, came out of a collaboration created as a result of the 2009 Marató de TV3 on minority diseases.
Article:
- Busquets-Garcia A., Gomis-González M., Guegan T., Agustín-Pavón C., Pastor A., Mato S., Pérez-Samartín A., Matute C., de la Torre R., Dierssen M., Maldonado R., Ozaita A. (31 Mar 2013). Targeting the endocannabinoid system in the treatment of fragile X syndrome. Nature Medicine doi: 10.1038/nm.3127. 31/3/2013