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Rett Syndrome Research Trust advisor makes significant discovery
Date:2/23/2009

2 is located on the X chromosome, girls with Rett Syndrome are mosaic: cells with a healthy copy of the gene lie side by side with cells that have the mutated version. Mandel and colleagues found that MECP2- deficient astrocytes could not sustain normal neuronal growth. In fact, their experiments suggest that MeCP2-deficient astrocytes secrete a toxic factor that impacts the entire neighborhood of neurons, including neurons with wildtype (normal) MECP2.

Conversely, they found that wildtype astrocytes could restore the stunted growth of MeCP2-deficient neurons. This finding supports the 2007 Science publication by Professor Adrian Bird showing reversal of Rett symptoms in adult mouse models of the disorder. Results from ongoing in vivo mouse studies deleting MeCP2 in glia are promising in terms of supporting the culture studies.

"This new study adds to the growing body of evidence that glial cells are critically important contributors to neurological diseases and therefore attractive targets for drug development," said Ben Barres, Professor and Chair of the Department of Neurobiology at Stanford University and a glial cell expert.

Recent studies from multiple groups, including the lab of Dr. Tom Maniatis, a neurodegenerative disease researcher at Harvard University, have implicated glia in Lou Gehrig's disease (Amyotrophic Lateral Sclerosis ALS), a devastating neurodegenerative disorder that leads to the death of motor neurons and total paralysis. "In Rett Syndrome, faulty glia seem to poison neurons, inhibiting growth; in ALS glia appear to release a toxic factor that kills motor neurons." Maniatis stated that "studies of the role of glia in a broad spectrum of neuronal diseases should lead to exciting advances in understanding disease mechanisms."

"Dr. Mandel's sharp insights have given the scientific community an entirely new way to think about treating Rett Syndrome. One could envision a scenario where halting the sec
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Contact: Monica Coenraads
monica@rsrt.org
203-445-0041
Rett Syndrome Research Trust
Source:Eurekalert

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