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Study sheds light on cause of autism spectrum disorder

Fresh insight into the cause of the neurological disorder Rett's syndrome has been uncovered in a study at the University of Edinburgh.

The autism spectrum disorder, which affects one in 10,000 girls, is known to be caused by the Mecp2 protien, which blocks a gene in human DNA and prevents the gene from functioning.

Unusual interaction

Proteins that behave in this way usually bond directly with a part of DNA to disable the gene.

Researchers were surprised to find that Rett's syndrome is caused by the Mecp2 protein interacting with water trapped around the DNA rather than reacting directly with the DNA itself.

The discovery provides new information on how mutations occur and enables scientists to better understand the complex pathway that leads to the neurological disorder.

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

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.

Professor Adrian BirdSchool of Biological Sciences