(July 15, 2015) Findings,
published today [15 Jul] in Nature Communications, reveal the extent a mutation
associated with autism and epilepsy plays in impairing a biochemical process in
the brain. The study, led by University of Bristol researchers, could provide a
new target for treating neurological disorders.
The brain contains billions of nerve cells which communicate
via the release of chemicals at connections called synapses. Each nerve cell can have thousands of
synaptic connections to hundreds of other nerve cells. The protein Synapsin 1a
plays a key role in regulating how synapses operate by regulating the amount of
chemical transmission.
SUMOylation is a chemical process in which a protein called
SUMO is attached to a target protein and modifies its function. Researchers
studying SUMOylation in the brain have shown that synapsin 1a is a target
protein for SUMOylation. They also found that a mutation called A548T in
synapsin 1a, which has already been associated with autism and epilepsy,
reduces synapsin 1a SUMOylation and interferes with its ability to function,
causing impaired synaptic function that may contribute to neurological disease.