17 July 2015
A new study has identified a brain mutation that could be linked to autism and epilepsy, as well as other neurological disorders.
The research, published in the journal Nature Communications, could provide a new target for treating neurological disorders as the mutation impairs a biochemical process in the brain.
A team at University of Bristol found that the protein Synapsin 1a plays a key role in regulating how the brain's connections or synapses operate by regulating the amount of chemical transmission.
Using a chemical process called SUMOylation to attach the protein SUMO to a target protein to modify its function, the researchers demonstrated that synapsin 1a is a target protein for SUMOylation.
They also found that a mutation associated with autism and epilepsy - A548T - reduces synapsin 1a SUMOylation and interferes with its ability to function, causing impaired synaptic function that may contribute to neurological disease.
Jeremy Henley, professor of Molecular Neuroscience in the University's School of Biochemistry in the Faculty of Medical and Veterinary Sciences and 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."
Posted by Edward Bartel
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