New light shed on health disorder

Fresh insight into the cause of the neurological condition Rett Syndrome has been uncovered in an Edinburgh University study.

The autism spectrum disorder, which affects one in 10,000 girls, is known to be caused by a protein called Mecp2.

It blocks a gene in human DNA and prevents the gene from functioning.

But the study found Rett was caused by the protein interacting with water trapped around the DNA, rather than reacting directly with the DNA itself.

What is Rett Syndrome?

• A neurological disorder often misdiagnosed as autism
• It is caused by a defective gene, found on the X chromosome and occurs almost exclusively in females
• Development seems normal until between six and 18 months, when acquired skills are gradually lost
• Additional problems can include seizures, breathing problems, problems with circulation, stiff muscles and curvature of the spine

The discovery is said to provide new information on how mutations occur and it is hoped it will enable scientists to better understand the complex pathway that leads to the disorder.

The study, funded by the Wellcome Trust, was published in the journal Molecular Cell.

Professor Adrian Bird, who took part in the research, said: "The result was not what everyone expected.

"We thought this process involved oily components sticking together, but we didn't expect oily contact to depend on water - because of course oil and water don't mix.

"The discovery has enabled us to understand in atomic detail the reasons why the mutated proteins fail to function properly in Rett patients."

RELATED INTERNET LINKS
University of Edinburgh
International Rett Syndrome Foundation
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