A Scottish medical research team has made a major breakthrough in the understanding of a severe autism spectrum disorder.

Rett Syndrome, which affects at least 10,000 children in the UK, is classified as an untreatable neurological disorder. It leaves victims profoundly disabled and there is no known cure.

However, after targeting a specific gene in mice, a research team from the universities of Glasgow and Edinburgh have succeeded in reversing the symptoms.

Neuroscientist Dr Stuart Cobb, from the University of Glasgow's Faculty of Biomedical and Life Sciences, said: "This breakthrough provides a small piece of hope for sufferers.

"The symptom reversal began after we targeted the MECP2 gene which causes Rett Syndrome. After the gene was switched on, symptoms such as motor control problems and breathing difficulties began to improve. Within a few weeks the affected mice were often indistinguishable from their healthy counterparts.

"It had been thought the disorder was caused by abnormal development but activating the MECP2 gene, even in adulthood, proved to be effective in reversing neurological symptoms.

"Analysing the communication between nerves in the brain, we discovered that abnormal signalling is also rectified when MECP2 gene is switched back on.

"The results really were quite astonishing and completely unexpected.

"Having demonstrated the concept of reversibility, it is hoped that the current breakthrough will encourage further research to discover a treatment."

Genetic therapies could include overriding the mutated version of MECP2 and activation of a healthy version of the gene. Alternatively, therapy could focus on drug treatment to counter the action of proteins abnormally expressed due to a MECP2 mutation.

The research was published online by the journal Science.

Chris James, director of Rett Syndrome Association UK, said: "The Rett Syndrome Association UK is extremely delighted to hear about the results. This is a very significant step on the road for future therapeutic approaches to Rett syndrome and, whilst the work in this area is still at an early stage, it will give hope to those families affected by Rett syndrome. It is particularly pleasing for us that we have been able to help fund this research that could have such a positive benefit for people with Rett syndrome, their families and carers."

Rett Syndrome is diagnosed almost exclusively in girls. They develop normally until 6 to 18 months, when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems.

Ray McHugh (r.mchugh@admin.gla.ac.uk)

For more information or to speak to Dr Stuart Cobb, please contact Ray McHugh, Media Relations, University of Glasgow on 00 44 141 330 3535 or email r.mchugh@gla.ac.uk

The research was funded by The Wellcome Trust, the Rett Syndrome Association UK and the Rett Syndrome Research Foundation.

First published: 9 February 2007