Autism, a complex neurodevelopmental disorder, has long puzzled scientists and researchers around the world. However, a recent breakthrough may bring us closer to unraveling some of the mysteries surrounding this condition.
Autism, a complex neurodevelopmental disorder, has long puzzled scientists and researchers around the world. However, a recent breakthrough may bring us closer to unraveling some of the mysteries surrounding this condition. Scientists from the Neuropharmacology Laboratory of Irccs Neuromed in Pozzilli (Isernia) have identified a potentially crucial role played by specific receptors on nerve cells in genetically based forms of autism. Their research, published in the journal ‘Neuropharmacology’, provides new insights and opens new perspectives for further exploration in this field.
The focus of the study was on mGlu5 receptors, a type of glutamate receptor found on nerve cells. Glutamate receptors play a vital role in transmitting signals between cells of the nervous system and are involved in various brain functions, including learning and memory. The Neuromed team, in collaboration with the University of Rome Sapienza, the Irccs Oasi di Troina (Enna) and the Institute for Biomedical Research and Innovation of the National Research Council (Irib-Cnr) of Catania, has specifically investigated experimental models of Angelman syndrome and fragile X chromosome syndrome, two forms of autism of genetic origin.
While previous scientific literature suggested increased mGlu5 receptor activity in these syndromes, the findings of the Neuromed researchers presented an unexpected twist. “Our research has given diametrically opposite results: the activity of the receptors has decreased,” explains Luisa Di Menna, a researcher at the Neuromed Neuropharmacology Laboratory. These findings challenge existing knowledge in the field and require further investigations to understand how this impaired functionality is involved in the development of these syndromes.
It is important to note that while the genetic cause has been identified in Angelman syndrome and fragile X syndrome, most cases of autism are not attributed to a specific DNA alteration. Instead, they are likely the result of a complex interaction of various genetic and environmental factors. In this context, discovering the biochemical processes that occur at the nerve cell level adds valuable pieces to the intricate puzzle that autism presents.
Ferdinando Nicoletti, professor of Pharmacology at La Sapienza University and head of Neuromed’s Neuropharmacology Laboratory, comments on the significance of these results. “Currently, there are no therapies that can effectively address autism spectrum disorders. Therefore, any progress towards a better understanding of the molecular mechanisms underlying this condition represents a crucial step that could potentially pave the way for new therapeutic approaches.”
While the road to developing effective treatments for autism may still be long and arduous, this groundbreaking research sheds light on a previously unexplored facet of the disorder. By delving into the intricate workings of nerve receptors and their role in genetically based forms of autism, scientists are making strides toward a better understanding of the condition. As our knowledge deepens, it is hoped that these discoveries will ultimately aid in the development of targeted therapies, offering new hope for people living with autism and their families.
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