MGluRs and Treating Different Autisms?
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.
We donâ€™t, at this point, know whether or not mGluRs will be effective for all types of autism. Fragile X is one of probably hundreds of causes of autism. Autism is really an umbrella term to refer to a spectrum of disorders that are clinically related by the symptoms, but probably caused by a number of different mutations. Indeed there are currently known at least a dozen single-gene disorders that are known to cause autism, and as our understanding of the genetics of autism grows, undoubtedly there will be hundreds more that will be discovered. But, whatâ€™s nice is that many of the single genes that are disrupted encode proteins that are inter-connected with each other either functionally or directly by direct contact between proteins, and many of them are at the synapse. We donâ€™t know whether or not that all of the disruptions are going to be in the same direction. For example, Angelman syndrome seems to have some features that are in the same direction as typical autism and other features that are in the opposite direction. So itâ€™s more like a spider web of inner connections between these proteins than a direct linear path. Itâ€™s hard to predict right now with any certainty whether a therapy for one is going to be helpful for all of the other ones, but at least itâ€™s hopeful that that will be the case, and especially the ones that are very closely related to the Fragile X mGluR pathway.
fragile x, syndrome, mglur, mglur5, glutamate, receptor, autism, mutation, protein, gene, spectrum, gul, dolen
Doctor Gul Dolen discusses how new biochemical treatments for Fragile X Syndrome may be used to treat autism.
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 discusses the significance of finding a potential biochemical treatment for the neurological disorder, Fragile X syndrome.
Doctor Gul Dolen describes the key characteristics of Fragile X syndrome, which can include problems with language, mental retardation, and symptoms of autism.
Doctor Gul Dolen explains that Fragile X syndrome is not a mendelian disorder, because the inheritance pattern in slightly different.
The FMR1 gene produces a protein involved in making cellular connections in the brain.
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.
The FMR1 gene produces a protein involved in making cellular connections in the brain. If this gene carries many repeats of the nucleotides CGG at one end, it is deactivated. People with this mutation display mental impairments or retardation. Fragile X s
Several lines of research are converging to show how opposing genetic pathways can lead to autism.
Mutations in two members of the neuroligin family, NLGN3 and NLGN4, have been associated with autism and Asperger syndrome.