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Study discovers link in childhood brain disease research

16 Jun 2009

University of Manchester scientists at the National Institute for Health Research Manchester Biomedical Research Centre (BRC) have discovered a new link between a rare childhood disorder and a common immune system disease.

Over the last 10 years Professor Yanick Crow and an international team of colleagues have studied the inflammatory brain disease Aicardi-Goutières syndrome (AGS). Some children with AGS also develop an early-onset form of the autoimmune disorder systemic lupus erythematosus (SLE).

The researchers previously discovered that mutations in four genes caused AGS. These genes provide the instructions for making nucleases, a type of protein which cleans up ‘waste’ nucleic acids produced during the normal life-cycle of our cells. A failure of this clean-up process causes waste DNA and other material to accumulate in cells. The immune system then mistakes this material as ‘foreign’ and attacks it.

Professor Crow, based in the School of Clinical and Laboratory Sciences, said: "We have now identified mutations in a fifth gene, accounting for approximately 20% of AGS cases. This result is important because it will allow for confirmatory genetic testing in children with suspected AGS, and the opportunity of genetic testing during pregnancy for affected families. Additionally, our data adds a previously unknown component to the puzzle of how the innate immune response is triggered in AGS and lupus.

"Further studies of this gene will increase our understanding of the precise mechanisms involved in causing AGS and SLE, and thus allow us to develop precisely targeted therapies for these devastating disorders. This is work that is ongoing in our BRC-supported laboratory."

The importance of the discovery linking the causes of AGS and SLE has led to the team's findings being published in the leading international magazine Nature Genetics.

About 300 families have been involved in the research project over 10 years. At least 10 new cases of AGS are diagnosed in the UK each year. Some cases are very severe, with about 40% of children dying from the disease before the age of 10, but others are much more mildly affected. More information on Aicardi-Goutières syndrome is available at


Notes for editors

The National Institute for Health Research (NIHR) Manchester Biomedical Research Centre is a partnership between the Central Manchester University Hospitals NHS Foundation Trust and The University of Manchester. 

The NIHR provides the framework through which the research staff and research infrastructure of the NHS in England is positioned, maintained and managed as a national research facility. The NIHR provides the NHS with the support and infrastructure it needs to conduct first-class research funded by the Government and its partners alongside high-quality patient care, education and training. Its aim is to support outstanding individuals (both leaders and collaborators), working in world-class facilities (both NHS and University), conducting leading-edge research focused on the needs of patients.

The BRC also receives funding from the North West Regional Development Agency.

For further information please contact:

  • Jill Hulme, Communications Officer, Central Manchester University Hospitals NHS Foundation Trust, on 07913 278514
  • Ben Grothusen, Communications Officer, Central Manchester University Hospitals NHS Foundation Trust, on 0161 901 2659
  • Aeron Haworth, Media Relations Officer, Faculty of Medical and Human Sciences, The University of Manchester, on 0161 275 8383