Tuberous Sclerosis, Fragile X May Be Molecular Opposites

Some forms of autism are caused by too many proteins at the synapse, the junction between neurons, whereas other forms result from too few, according to a study published 23 November inNature.The findings suggest that drugs that effectively treat people with one form of autism may not help, and may even harm, individuals with another form, the researchers say."One implication is, boy, it’s going to be important to know where you are on this spectrum to devise the right therapy," says lead investigator Mark Bear, professor of neuroscience at the Massachusetts Institute of Technology.The work, first presented at the 2010 Society for Neuroscience annual meeting in San Diego, focuses on mouse models of two genetic diseases: fragile X syndrome, the most common inherited cause of autism, and tuberous sclerosis complex (TSC), characterized by benign tumors, seizures and, often, autism.Autism is notoriously diverse. But the new study suggests that many forms of the disorder stem from a spectrum of disruptions to the same biological pathway, Bear says. "The hope is we’re gaining insights that will be broadly applicable."Read more at...SFARI, December 2011.