Study proves brain mutation and neurodisorders link

New research has revealed the how much of a role a mutation associated with autism and epilepsy plays in impairing a biochemical process in the brain.

The study, led by researchers at the University of Bristol in the UK and part-funded by the European Research Council, 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 controlling the amount of chemical transmission.

SUMOylation is a chemical process where 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.

Professor Jeremy Henley, the study’s lead author, said: “These results show the extent and how critical the role synaptic proteins regulated by SUMOylation play in neurological disorders. Importantly, they provide further evidence for SUMO modification of synaptic proteins in health and disease.”

The findings are published in Nature Communications.