A crippling brain disorder affecting at least 10,000 children in the UK, mostly girls, could be cured as a result of research by Scottish scientists.
Rett syndrome, a severe autism spectrum disorder, is classified as untreatable. It leaves victims in a wheelchair, unable to speak and suffering from breathing difficulties.
But experts at Edinburgh University and Glasgow University have been able to make symptoms disappear in mice, by activating a specific gene.
Researchers focused on the MECP2 gene that causes the syndrome. They found that when this gene was activated in mice, which had been born with it switched off, symptoms such as breathing and mobility difficulties ceased. After four weeks, the mice were undistinguishable from healthy counterparts.
The findings give impetus to ways of treating Rett syndrome and other disorders related to MECP2, including some forms of schizophrenia, learning disabilities and other autism spectrum disorders.
Professor Adrian Bird, director of the Wellcome Trust Centre for Cell Biology at the University of Edinburgh, led the research. He discovered the MECP2 gene in 1990.
He said: "The results were entirely unexpected. It had been thought that Rett syndrome is irreversible, but our findings show that the damage to nerve cell function is, in fact, reversible.
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. It is hoped that the current breakthrough will encourage further research."
Rett syndrome is diagnosed almost exclusively in girls. They develop normally until six 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. It is believed to be the second most common cause of severe and profound learning disability in girls.
Chris James, director of Rett Syndrome Association UK, said: "This is a very significant step on the road for future therapeutic approaches to Rett syndrome and, while the work is still at an early stage, it will give hope to families affected"
Potential treatment, following on from the research, could involve overriding the mutated version of MECP2 by activating a healthy version, or it could focus on drugs to counter the action of proteins abnormally expressed due to the MECP2 mutation.
Similar strategies could treat childhood schizophrenia, classic autism and learning disabilities, according to Professor Huda Zoghbi, an expert on MECP2.
Prof Zoghbi, of Baylor College of Medicine in Huston, Texas, said: "If we can develop therapies to address the loss of MECP2 we may be able to reverse neurological damage in children and adults with Rett, autism and related neuropsychiatric disorders."
The research, published online by the journal Science, was funded by the Wellcome Trust, Rett Syndrome Association UK (with support from Jeans-for-Genes) and the US-based Rett Syndrome Research Foundation.
Among those praying for a breakthrough in the fight against the syndrome is Colleen McLoughlin, partner of England striker Wayne Rooney. Her adopted sister, Rosie, has Rett syndrome Rosie was two when she came to the McLoughlins as a foster child. They later adopted her. Ms McLoughlin said: "When Rosie arrived she could crawl, and even though she couldn't use her hands that much she would handle toys and she could eat. But over a period of time she stopped crawling and lost what use of her hands she had. Then she started having problems swallowing her food. She would cough and choke and bring food back up as she was trying to eat."
It took a year for Rosie to be properly diagnosed with Rett syndrome. She is now eight and can no longer walk or talk. She has to be fed through a tube to her stomach. Rosie often receives treatment at a Liverpool hospice, to which Rooney has donated thousands of pounds.
Links:
www.rettsyndrome.org.uk
www.rsrf.org
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