What Causes Fragile-X Syndrome, and How Is It Linked to Autism?
The root cause of fragile-X syndrome is a gene mutation also strongly associated with some cases of autism. The two disorders sometimes occur together. The mutation is in a gene that makes a protein called FMRP. However, this gene mutation isn’t the target of the compounds being tested; the targets are receptors on brain cells, called mGluR5 receptors. The gene mutation is thought to have trickle-down effects that include mGluR5 receptors, which lead to the symptoms of fragile-X syndrome.
