A mutation in a gene called MECP2 causes Rett syndrome. In mice with the mutation, a stress-control hormone called corticotropin releasing hormone (CRH) is elevated in the hypothalamus, which is likely to contribute to the stress and anxiety that are a Rett feature. Image Credit: Huda Zoghbi
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Rett Syndrome Gene Finding Paves Way for Treatment

By Rabiya S. Tuma
March 01, 2007

Thanks to the latest in a series of findings dating to 1999, researchers may be closing in on treatments for Rett syndrome, a neurological disorder that primarily affects girls and leaves them physically and mentally disabled. 

Children with Rett syndrome develop normally for six to eighteen months, but then they start to regress, losing language skills and physical coordination. The children lose the ability to make purposeful movements and many habitually wring their hands. The syndrome causes breathing problems and seizures in some children, and many withdraw socially around the time other symptoms arise. 

Despite these profound problems, people with Rett syndrome can live into adulthood with proper care. Researchers find no evidence of neurodegeneration in affected patients. Rather, they hypothesize that the neurons fail to develop completely but remain intact. 

In the latest findings, announced in February, Adrian Bird, a professor at the Wellcome Trust Centre for Cell Biology at the University of Edinburgh, was able to reverse Rett symptoms in a mouse model of the disease. 

“We have not devised a therapy, but what we have done is say there is an enormous amount of hope,” Bird says. “This is a potentially reversible disorder.”

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