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Meeting with Elisabetta Aloisi, laureate of the 2013 Young Researcher Jérôme Lejeune Award.

25 Oct 2013 Meeting with Elisabetta Aloisi, laureate of the 2013 Young Researcher Jérôme Lejeune Award.

Meeting with Elisabetta Aloisi, laureate of the 2013 Jérôme Lejeune Young Researcher Award. She recieve the price to reward her research on the understanding of the  brain in the animal model of X Fragile syndrome. 

Prix Jeune Chercheur Jerome Lejeune 2013 Elisabetta AloisiMeeting with Elisabetta Aloisi, laureate of the 2013 Jérôme Lejeune Young Researcher Award. She recieve the price to reward her research on the understanding of the  brain in the animal model of X Fragile syndrome. 

  • Hello Elisabetta, you just receive the 2013 Jérôme Lejeune young researcher award could you present yourself and your career?

Elisabetta Aloisi : Hello, my name is Elisabetta Aloisi. I studied at the University of Catania in Italy and after the obtention of my master degree in pharmaceutical chemistry I was enrolled to the joint-PhD program (co-tutelle) with the University Victor Segalen Bordeaux 2 (Ecole Doctorale Science de la Vie et de la Santé – Neuroscience) and the University of Catania (International PhD program in Neuropharmacology) under the supervision of the Dr Andreas Frick and the Dr Maria Vincenza Catania and the Pr Pier Vincenzo Piazza. Currently I am doing my research at the Neurocentre Magendie in Bordeaux working on a project concerning the study of neurobiological basis of Fragile X Syndrome, the most common genetic inherited form of intellectual and developmental disabilities, caused by the mutation in the Fmr1 gene located on the X chromosome.

  • You made your thesis of X Fragile syndrome. What was yours assumptions? What is the composition of the synapses and what is the structure link to the transmission of the information? Why the metabotropic glutamate receptors was interesting to be studying?

Elisabetta Aloisi : Fragile X Sydrome is a genetic condition that causes a range of developmental disorders including learning disabilities and cognitive impairment. Some evidences from the animal model of the desease showed alterated activity and connection between neurons (brain cells) at the synapse, the place where nerve signals are passed from one neuron to another. Synapses are small structures containing around 2000 proteins that need to be regulated in a very controlled manner. Any small dysfunction of this cellular area can result in a brain disease. Autism and intellectual disabilities are only a few examples of brain conditions that are linked to poorly functioning synapses.

Changes in the interaction of metabotropic glutamate receptors sub-type 5 (mGlu5) with structural protein within the synapse seem to be a core pathogenic mechanism for Fragile X Syndrome. mGlu5 receptors are a group of glutamate receptors (glutamate is the main excitatory neurotransmitter in the brain) that regulates the communication between neurons at the synapse. Despite the prominent role of mGlu5 receptors in the regulation of brain activity and cognition very little is known regarding the dynamics and the distribution of these receptors in the synapse. We therefore placed particular emphasis on the changes in the link of mGlu5 receptors with structural synaptic protein and how they can affect the dynamics and the distribution of these receptors. We demostated that the alteration of this link contributes to mGlu5 receptor dysfunctions at the synapse and it cause many pathogenic symptoms of Fragile X Syndrome.

  • What are the results of your research? In what are they discoveries and what can be the implications?

Elisabetta Aloisi : Our work sheds light on new subcellular mechanisms involved in Fragile X Syndrome. For the first time we found an alteration of the mGlu5 receptor dynamics in the animal model of Fragile X syndrome, suggesting a novel alteration of the receptor function. Moreover we showed that this unstability is due to a defective association with the synaptic structural proteins.
This study suggests new directions to understand the role of mGlu5 receptor in the regulation of synaptic function and whether its altered activity contributes to cognitive disorders and autism, such as Fragile X Syndrome.

  • What research or therapeutic consequences can be lead by this discovery in the coming years?

Elisabetta Aloisi : Our work reveals new evidences for the alteration of the interaction between mGlu5 receptors and structural proteins within the synapse in the neuron of the animal model of Fragile X syndrome.
This work could lead to the development of a new therapeutic strategy for the treatment of the disorder. Modulation of the link between mglu5 receptor and these structural proteins may rapresent a novel therapeutic approach for Fragile X Syndrome and related cognitive disorders. Another possibility would be to modify the unstability of the receptor at the synapse to rescue the receptor function.

  • How do you see your future in the coming years ?

Elisabetta Aloisi : In the next years I would like to continue to investigate autism. I believe focusing on early development would give a better chance of treatment, because a young child’s brain is still forming and early intervention gives children the greatest chance of improving their condition. Therefore I would like to study developmental problems including learning disabilities and cognitive impairment.

If I have the opportunity, I would like to transfer the knowledge of basic science that I have acquired over these years to preclinical or clinical studies that might lead to important advances in the understanding of cognitive disorders.

  • If you had a dream of retirement what would it be ?

Elisabetta Aloisi : Well, my career is just at the beginning and but I have already some dreams. I would like to continue working in fundamental research and in parallel to have collaborations with clinicians to improve the condition of patients by means of interdisciplinary research. I hope that my work might be useful to dissect the mechanisms underlying cognitive disorders and autism and that consequently it will help clinicians to devise treatments for these disorders. Finally, I would like to look back at my carreer and be proud that I made a significant reasearch, useful to the diseased people.

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