Brain mutation linked to autism and epilepsy

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

Health News is provided by Adfero in collaboration with Spire Healthcare. Please note that all copy above is ©Adfero Ltd. and does not reflect views or opinions of Spire Healthcare unless explicitly stated. Additional comments on the page from individual Spire consultants do not necessarily reflect the views or opinions of other consultants or Spire Healthcare.

Find a treatment, test or scan available at:


Find a consultant

Use one or more of the options below to search for a consultant and link through to view their Spire profile.


Let us help you

fill out this form and we will get back to you:

Please select a hospital

We can call you

Please enter your details below and we will call you back.

What is the aim of your enquiry?

Please select a hospital

If we are unable to reach you by phone, please include your email address so that we can get in touch...


Diagnostic imaging

© Spire Healthcare Group plc (2016)