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Rett Syndrome Reversed in Genetic Mouse Model

The RSRF announced the results of a landmark study reversing the symptoms of Rett Syndrome (RTT) in a genetic mouse model//. The findings, by Adrian Bird, Ph.D., of the University of Edinburgh and Chairman of the Rett Syndrome Research Foundation (RSRF) Scientific Advisory Board, appear online in Science Express on February 8, 2007.

Rett Syndrome is a severe childhood neurological disease that is the most physically disabling of the autism spectrum disorders. The experiments were funded by the Rett Syndrome Research Foundation (RSRF), the Wellcome Trust and the Rett Syndrome U.K./Jeans for Genes.

Caused by mutations in the gene MECP2, RTT affects primarily girls, striking at random in early childhood and destroying speech, normal movement and functional hand use. Many children become wheelchair bound; those who walk display an abnormal, stiff-legged gait. Disordered breathing patterns and Parkinson-like tremors are common.

Restoration of fully functional MECP2 over a four-week period eradicated tremors and normalized breathing, mobility and gait in mice that had previously been fully symptomatic and, in some cases, only days away from death.

"Like many other people, we expected that giving MeCP2 to mice that were already sick would not work," said Bird. "The idea that you could put back an essential component after the damage to the brain is done and recover an apparently normal mouse seemed farfetched, as nerve cells that developed in the absence of a key component were assumed to be irrevocably damaged. The results are gratifyingly clear, though, and must give hope to those who are affected by this distressing disorder."

Bird is Buchanan Professor of Genetics at University of Edinburgh and Director of the Welcome Trust Centre for Cell Biology. MeCP2, first identified by Bird in 1990, is considered to be a protein that regulates the expression of other genes by turning them off at the appropriate time. <
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