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21 - 09 - 2017

Autism: discovery of the gene that regroups all?

Based on patient and in vivo and in vitro rodent studies, researchers have discovered that the gene Trio is the target of many of the geneticaly altered genes associated with autism.
Autism Spectrum Disorder (ASD) affects about 1% of humans. The idea of a de novo genetic origin of this disease is gathering more evidence.
Moreover, recent studies conducted in vivo in rodent models show that the dysfunction of the enzyme Rac1 * which intervenes in the construction of the synapses of the brain, causes ASD type symptoms.
After studying thousands of genomes of people with ASD and following in vitro rodent tests on neurons, researchers have found that many ASD-related mutations altered the function of the gene Trio. This gene regulates the activity of Rac1, and functional changes can therefore cause the ASD type symptoms observed in vivo in rodent models.


The researchers conclude that changes to the Trio gene:
• - can cause synaptic dysfunctions
• - could be a point of convergence for the many of the genes linked to ASD.

These results are  essential before considering therapeutic strategies for autism.
* The enzyme Rac1 acts on the structure of the glutamatergic synapses which have a role in the communication between each neuron of the brain