04:04pm Thursday 14 November 2019

Nature study adds new evidence linking brain mutation to autism, epilepsy and other neuro 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.

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.”

The study was funded by the Medical Research Council [MRC], the Biotechnology and Biological Sciences Research Council [BBSRC] and the European Research Council [ERC]


Synapsin Ia SUMOylation is required to maintain synaptic vesicle availability and is reduced in a mutation linked to autism’ [open access] by Leo Tang, Tim J. Craig and Jeremy M. Henley in Nature Communications.


Further information


The Biotechnology and Biological Sciences Research Council (BBSRC) invests in world-class bioscience research and training on behalf of the UK public. Our aim is to further scientific knowledge, to promote economic growth, wealth and job creation and to improve quality of life in the UK and beyond. Funded by Government, BBSRC invested over £484M in world-class bioscience in 2013-14. We support research and training in universities and strategically funded institutes. BBSRC research and the people we fund are helping society to meet major challenges, including food security, green energy and healthier, longer lives. Our investments underpin important UK economic sectors, such as farming, food, industrial biotechnology and pharmaceuticals. For more information about BBSRC, our science and our impact see: http://www.bbsrc.ac.uk. For more information about BBSRC strategically funded institutes see: http://www.bbsrc.ac.uk/institutes

About the MRC

The Medical Research Council is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers’ money in some of the best medical research in the world across every area of health. Thirty-one MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. www.mrc.ac.uk

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