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Stem cell research paves way for progress on dealing with Fragile X retardation
Date:5/22/2012

their latest study (published in the Journal of Molecular Cell Biology), the researchers harnessed this ability to turn the stem cells into neuronal brain cells. After generating the cells, they screened several chemical substances with the aim of finding one that would restore FMR1 normal gene expression. They showed that the substance 5-azaC was able to clear the methyl groups from the regulatory elements of the gene, allowing for the efficient restoration of FMR1 expression in both stem and neuronal brain cells.

The substance 5-azaC has been known for many years to clear methyl groups from regulatory elements of genes, and is also an already established drug for other diseases. However, this is the first time that it has been shown to successfully clear the methylation in neurons or stem cells of Fragile X patients.

In addition, the researchers were able to show that gene expression is maintained even after 5-azaC withdrawal, so there is no need to administer it continuously. This raises hopes for the use of the compound as a potential drug for the benefit of Fragile X patients.

According to Bar-Nur, "There is still a substantial gap between the restoration of gene expression in cultured patients' cells and restoring it in patients; however, the finding that it is possible to restore gene expression in neuronal cells paves the way for further study of its restoration in patients." He concludes: "New technologies developed in recent years in the stem cell field allow us to conduct research that was not possible until recently".


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Contact: Jerry Barach
jerryb@savion.huji.ac.il
972-258-82904
The Hebrew University of Jerusalem
Source:Eurekalert  

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