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New therapy for fragile X chromosome syndrome discovered
Date:4/10/2013

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 pharmace
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Contact: Oihane Lakar Iraizoz
o.lakar@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

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