A promising avenue for the treatment of Fragile X syndrome, the most common genetic cause of intellectual disability and autism in boys, has opened up thanks to a collaboration between researchers in the U.S. and Canada.
Published in the journal Neuron, the work involved the laboratory of neurology professor Carlos Portera-Cailliau of the University of California, Los Angeles, and that of the late neurosciences professor Roberto Araya at Université de Montréal.
Done on mice, the preclinical study shows that the EPAC2 protein is produced in greater quantities in the brains of those affected.
Blocking this protein improves both brain function and certain associated behaviours, including sensory hypersensitivity, social interactions, and seizure susceptibility.
Because its expression is largely limited to the brain, EPAC2 represents a particularly compelling therapeutic target.
