Biochemical Treatments for Autism?
Doctor Gul Dolen discusses how new biochemical treatments for Fragile X Syndrome may be used to treat autism.
Right now, the status of the project is that we have proven in principle in the mouse model that in fact the protein missing in Fragile X, which is FMRP, and mGluR work in functional opposition. We did that in mice and we used genetics to do it because when you use molecular manipulations to turn down signaling, itâ€™s very clean; you know exactly what youâ€™re doing, you know exactly how much of the protein is available and itâ€™s very precise. But in humans of course you wouldnâ€™t be able to do that sort of manipulation, at least not yet. So the way that we are approaching this issue in humans is pharmacologically. Indeed, based on our findings, clinical trials are underway in humans. A number of companies are developing metabotropic glutamate receptors as therapeutic targets for Fragile X. Really, whatâ€™s very exciting is that by looking at this pathway and figuring out how synaptic plasticity is disrupted, and understanding how metabotropic signaling works, itâ€™s clear that mGluRs and FMRP donâ€™t exist in isolation at the synapse and that there are a number of other proteins that interact with these proteins, and they are all found in the synapse. Interestingly a number of the proteins that interact with mGluRs have also been identified as candidate genes for autism. Those candidate genes interact with mGluRs and it suggests that the therapies that weâ€™ve developed for Fragile X may be effective, although that is not known at this point. But itâ€™s very exciting because, at least theoretically, it may be that the drugs that we develop to cure Fragile X will be useful in some, if not all, causes of autism.
fragile x, syndrome, autism. treatment. glutamate receptor, candidate genes, therapeutic, mouse model, genetics, mice, gul, dolen
Doctor Gul Dolen explains that there are many single-gene disorders on the autism spectrum, which may or may not respond to mGluR-related treatment.
Doctor Gul Dolen discusses the significance of finding a potential biochemical treatment for the neurological disorder, Fragile X syndrome.
Doctor Gul Dolen explains that Fragile X syndrome can be considered a disorder of plasticity, mediated by metabotropic glutamate (mGlu) receptors, and potentially treatable with pharmaceuticals.
Doctor Gul Dolen describes the key characteristics of Fragile X syndrome, which can include problems with language, mental retardation, and symptoms of autism.
Mental retardation: struggle, stigma, science.
Doctor Gul Dolen explains that Fragile X syndrome is not a mendelian disorder, because the inheritance pattern in slightly different.
Several lines of research are converging to show how opposing genetic pathways can lead to autism.
Doctor Gul Dolen defines synapse-opathies as disease where the synapse is the part of the brain that is disrupted. Fragile X and autism are examples.
Mutations in two members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and Asperger syndrome.
image of a mouse.