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Researchers identify a new form of disease gene associated with Rett syndrome

TORONTO (March 22, 2004) -- Scientists at The Hospital for Sick Children (Sick Kids), the Centre for Addiction and Mental Health (CAMH) and the University of Toronto (U of T) have identified an alternate form of the disease gene and protein for the neurodevelopmental condition Rett syndrome. This discovery is being incorporated into a new molecular test that will aid not only in the diagnosis of Rett syndrome, but also for other developmental disabilities. This research is reported in the April issue of the scientific journal Nature Genetics (available online March 21, 2004).

"The previously identified gene MECP2 was only found in approximately 80 per cent of patients with Rett syndrome," said Dr. Berge Minassian, the study's principal investigator, a Sick Kids neurologist and scientist, and an assistant professor in the Department of Paediatrics at U of T. "Our discovery suggests that a defective alternate form of the MECP2 gene causes Rett syndrome."

The protein produced by the new alternate gene is different than the protein that was first associated with Rett syndrome in 1999. In the current work, this novel molecule was found to be disrupted in some Rett syndrome patients while the original form of the protein remained intact. The new protein is also the predominant form in the brain, strongly indicating that it is the disease-relevant protein.

"Our group's interest in Rett syndrome is relatively recent," said Dr. John Vincent, co-principal investigator of the study, head of the Molecular Neuropsychiatry & Development laboratory at CAMH, and assistant professor in the Department of Psychiatry at U of T. "Our fresh look at this problem was less affected by established dogma, and allowed us this new insight."

Rett syndrome is a genetic neurological disorder that occurs almost exclusively in girls, as the gene is found on the X chromosome. Babies with Rett syndrome appear to develop normally until 6 to 18 months of age. They then e
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Contact: Laura Greer, The Hospital for Sick Children
laura.greer@sickkids.ca
416-813-5046
University of Toronto
22-Mar-2004


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