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Researchers 'grow Rett syndrome' in a Petri dish
Date:11/15/2010

(Cincinnati, OH) A groundbreaking study published Friday in the leading scientific journal, Cell, revealed that a team of investigators had successfully generated nerve cells using skin cells from four individuals with Rett syndrome. The study, funded in part by IRSF, was led by Dr. Alysson Muotri at the University of California, San Diego--a leading researcher in the stem cell field.

The article, titled 'A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells,' describes how the team used a newly-devised procedure to reprogram the skins cells - literally winding back their developmental clock to an earlier state and transforming them into stem cells. The researchers then employed a second novel technique, taking the newly-formed stem cells and driving them along a developmental path to form nerve cells. When Dr. Muotri and his team examined these new nerve cells closely, they observed characteristic hallmarks of nerve cells with Rett syndrome, including fewer synapses, smaller cell bodies and changes in the cells' signaling capabilities. The group then took their work a step further; testing several drugs previously shown to be effective in mouse models of Rett syndrome, they provided evidence of functional rescue, using human cells. In 1999, the laboratory of Dr. Huda Zoghbi at Baylor College of Medicine, made a seminal discovery, identifying a causative link between mutations in the gene methyl-CpG-binding protein 2 (MeCP2) and Rett syndrome. This led to further work showing the MeCP2 protein is critical for the proper functioning of nerve cells. In 2007 another study in the laboratory of Dr. Adrian Bird at the University of Edinburgh, Scotland showed that restoration of MeCP2 function in a mouse model of the disease reverses the neurological symptoms in adult mice. This finding provided a critical proof of concept that symptoms of the disorder may be reversible in humans. However, t
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Contact: Stephen Bajardi
917-267-4503
International Rett Syndrome Foundation
Source:Eurekalert

Page: 1 2

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