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Rett Syndrome Symptoms Reversed in this debilitating Autism Spectrum Disorder - Mice Study

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Rett Syndrome Symptoms Reversed in this debilitating Autism Spectrum Disordert

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A landmark study has been announced with the successful ability to reverse symptoms in Rett Syndrome in a genetic mouse model. This announcement comes from the Rett Syndrome Research Foundation (RSRF) and the study was led by by Adrian Bird, Ph.D., of the University of Edinburgh and Chairman of the RSRF Scientific Advisory Board. The study appeared in the February 8th online edition of Science Express.l

Rett Syndrome is a severe neurological disease that affects primarily girls in their childhood. It appears that Rett Syndrome strikes randomly. The syndrome systematically destroys speech, ability to move and they lose their ability to use their hands normally. The children with Rett Syndrome often become wheelchair bound and those that are able to walk have an abnormal stiff legged step. This is one of the most physically disabling of the autism spectrum disorders. They also develop problems with breathing and Parkinson-like tremors can occur.

The researchers were able to fully restore mobility, remove tremors, and normalize breathing in mice with Rett Syndrome by giving them MECP2 over a four week period. These mice experienced fully, even with 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."

MECP2 gene was first discovered in 1999 by Huda Zoghbi, M.D., Professor, Departments of Molecular and Human Genetics, Pediatrics, Neurology, and Neuroscience at Baylor College of Medicine was the cause of Rett syndrome when there is a mutation. Other disorders including childhood schizophrenia, classic autism and learning disabilities may also be linked to mutations in the MECP2 gene.

"The findings are extraordinary, and are of relevance not only to Rett Syndrome but to a much broader class of disorders, including autism and schizophrenia. The successful restoration of normal function demonstrated in the mouse models suggests that if we can develop therapies to address the loss of MECP2 we may be able to reverse neurological damage in children and adults with Rett, autism and related neuropsychiatric disorders," noted Zoghbi.

"The reversal of neurological defects, reported in the remarkable article by Guy et al, is surprising because the cause of the symptoms occurred early in development and was expected to be permanent. Of particular note is the recovery of LTP, which is the best current physiological correlate of learning and memory. These findings are very encouraging for those searching for a treatment because they give hope that the symptoms could not only be halted from progressing, but the course of the disease itself may be able to be reversed," stated Fred Gage, Ph.D. of the Salk Institute of Biological Studies.

"Dr. Bird's astonishing results usher in a new era for Rett Syndrome and other autism spectrum disorders. The reversal experiments provide justification for aggressive exploration of next steps on all fronts, from drug discovery to gene correction. The Rett Syndrome Research Foundation will be focused on a comprehensive effort to identify and speed treatments to the children and adults in dire need of them," commented Monica Coenraads, co-founder and Director of Research for RSRF and mother of a young daughter with the disorder.

By Mark Barone
Best Syndication Health Writer

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