New therapeutic target for Fragile X syndrome
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Therapeutic target for Fragile X syndrome
According to a new study published in the current issue of Biological Psychiatry, fragile X syndrome could benefit from a new treatment. Researchers at the University of Catania in Italy have discovered a new therapeutic target: serotonin 7 (5-HT7) receptor.
Fragile X syndrome, one of the genetic causes of autism, is one of the most common causes of mental retardation in boys. In addition to intellectual disability, boys with fragile X syndrome have several features in common: elongated face, protruding ears, large testicles, muscle hypotonia, and more. The cause of this syndrome consists of a single gene mutation in the Fragile X Mental Retardation 1 (FMR1) gene, which is found on the X chromosome. Regarding neurological and psychiatric manifestations, these children have social anxiety, are hyperreactive to visual or auditory stimuli and may have attention deficit hyperactivity disorder. In general their IQ level does not exceed 70. Currently there is no cure for XFS, but medications can be used to improve behavioral problems such as anxiety, hyperactivity etc.
About a decade ago, Dr. Mark Bear and his colleagues made the first advances in the treatment of fragile X syndrome. They demonstrated that blocking glutamate receptor 5 (mGluR5) could be the basis for the first treatment of XFS. Glutamate receptor 5 (mGluR5) is part of a specific mechanism that mediates a distinct alteration in brain function, that is enhanced long-term depression. Enhanced long-term depression, which was associated with XFS, refers to decreased functionality of neuronal synapses. Recent studies have shown that mGluR5 inhibitors, such as the drug fenobam, have beneficial effects in patients with XFS. It is possible that treatment with mGluR5 become a future therapy for the treatment of patients with fragile X syndrome even if more research should be done about it.
Now a team of researchers led by Dr. Lucia Ciranna, discovered new therapeutic targets. Experiments on animals have shown that long-term depression, mediated by mGlu receptors can be reduced by blocking a new therapeutic target: serotonin 7 (5-HT7) receptor. What is interesting is that the researchers found that this effect occurs in the hippocampus, one of the brain structures involved in learning and memory. Dr. Ciranna said the findings open new perspectives for patients with XFS as the selective agonists for 5-HT7 receptors may be useful pharmacological tools. A potential treatment for Fragile X syndrome is the compound LP-211 that acts as an agonist for 5-HT7 receptors, but more research needs to be done before it can be tested on humans.