An article in the April 2011 issue of Nature Medicine highlights the mechanistic overlap between autism and epilepsy.
By studying how rare genetic conditions known to coincide with both epilepsy and autismâ€”such as Rett syndrome, fragile X syndrome and tuberous sclerosisâ€”unfold at an early age, neuroscientists are finding that both disorders may alter some of the same neural receptors, signaling molecules and proteins involved in the development of brain cell synapses.
Emory cell biologist Gary Bassell and his colleagues have been taking exactly this approach. Recently they published a paper in Journal of Neuroscience, showing that the protein missing in fragile X syndrome, FMRP, regulates expression of an ion channel linked to epilepsy. This could provide a partial explanation for the link between fragile X syndrome and epilepsy.
The Nature Medicine article also mentions a drug strategy, targeting the mTOR pathway, which Bassell’s group has been exploring with fragile X syndrome.