Public Release: 

New disease could signal hope for sufferers of brain aging conditions

Genetic disease discovered by experts at the University of Sussex

University of Sussex

A new genetic disease which results in neurodegeneration has been discovered by experts at the University of Sussex.

In a study published today, Wednesday 21 December, in the top scientific journal Nature, the team from the University of Sussex's Genome Damage and Stability Centre (GDSC) reveal they have discovered the disease, ataxia oculomotor apraxia type XRCC1, which is caused by a genetic mutation that disrupts the repair of our DNA.

The team discovered that when single strands of our DNA are damaged, a genetic mutation in a gene called XRCC1 causes a vital DNA-repairing enzyme (known as PARP1) in our bodies to over-activate. In people suffering from the new disease the scientists discovered the speeding up of this key enzyme actually triggers the death of brain cells.

Single strand breaks are one of the most common types of DNA damage and the researchers believe it's possible the discovery of this new genetic disease could be important for scientists researching other rare DNA repair related diseases. The team also believe the findings could eventually prove significant for researchers looking into more common neurodegenerative and brain ageing conditions, such as Alzheimer's, Huntington's and Parkinson's.

Professor Keith Caldecott, who led on the study, said: "Discovering this new disease and its cause is a huge step towards developing drug-based therapies for other rare neurodegenerative conditions.

"Drugs which target this key DNA repairing enzyme in the right way, could prove vital for treating people suffering from diseases caused by the over-activation of this protein - it is now crucial we determine what diseases these are.

"More research needs to be done - but it's also possible the cause of this newly discovered condition could contribute to the death of nerve cells in people suffering from diseases such as, Alzheimer's, Huntington's and Parkinson's."


The study entitled "XRCC1 Mutation is Associated with PARP1 Hyper-activation and Cerebellar Ataxia" has been published in Nature and can be found here

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Notes to Editors:

The University of Sussex's School of Life Sciences is one of the largest academic schools at the University of Sussex. With 96 per cent of its research rated as world leading, internationally excellent or internationally recognised (REF 2014), it is among the leading research hubs for the biological sciences in the UK. The School is home to a number of prestigious research centres including the Genome Damage and Stability Centre and the Sussex Drug Discovery Centre, where academics work with industry to translate scientific advances into real-world benefits for patients.

The University is also planning a new state-of-the-art Life Sciences building which will transform the way scientists carry out research and will provide students with a high-tech learning experience. The world-renowned School boasts two previous Nobel Prize-winning scientists, Sir Harry Kroto and Sir John Cornforth, and is known for its high quality teaching and ground-breaking research into conditions such as cancer and neurodegeneration, as well as driving major advances in areas such as ecology and conservation, neuroscience and drug discovery.

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