14/07/08 - New information of the cause of Rett Syndrome

Scientists at Edinburgh University have uncovered new information into the cause of Rett Syndrome.

The autism spectre condition, which affects one in 10,000 girls, is known to be caused by a protein called Mecp2.� It obstructs a gene in human DNA and stops the gene from functioning.

The study discovered that Rett was caused by the protein interacting with water caught around the DNA, rather than reacting with the DNA itself.

The revelation is said to provide new information on how anomalies happen and it is hoped that it will allow scientists to have a better understanding of the complex road that leads to the condition.

The study was funded by the Wellcome Trust.

For further information visit:

www.ed.ac.uk

www.rettsyndrome.org

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

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