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

Jerusalem, May 22, 2012 Researchers at the Hebrew University of Jerusalem have achieved, for the first time, the generation of neuronal cells from stem cells of Fragile X patients. The discovery paves the way for research that will examine restoration of normal gene expression in Fragile X patients.

Fragile X syndrome is the most common cause of inherited mental retardation, affecting hundreds of thousands of patients worldwide. The syndrome is caused by lack of normal expression (functioning) of the FMR1 gene that is critical for normal cognitive function in brain neuronal cells.

Absence of expression of the FMR1 gene is caused by a mutation in the regulatory elements that govern its expression. The abnormal addition of chemical methyl groups to the regulatory elements causes gene silencing in patients, culminating in severe mental retardation.

A potential way to help patients is to find compounds that will clear the abnormal methyl groups from the regulatory elements and reactivate normal gene expression. In their work, the Hebrew University researchers have identified a chemical compound that restored normal gene expression specifically in neuronal cells, the cell type most affected in patients.

The research was conducted in the laboratory of Nissim Benvenisty, the Herbert Cohn Professor of Cancer Research at the Hebrew University, by PhD student Ori Bar-Nur and undergraduate student Inbal Caspi. They demonstrated, for the first time, the generation of brain neuronal cells from patients of Fragile X syndrome in a dish culture. In doing so, they were able to find a substance that restored normal gene expression in patients' cells.

In a previous study conducted in the Benvenisty laboratory, a novel technology was used to induce pluripotent stem cells from skin cells of Fragile X patients. Pluripotent stem cells have the amazing ability to differentiate into any human cell type in a dish culture.

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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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