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Hope for children with rare genetic defect
Date:4/19/2011

This press release is available in German.

FRANKFURT, Germany. It is a rare disease with devastating consequences: Around first grade, the children start experiencing vision impairments, which two to three years later progress to complete blindness. This is the first indication of a progressive destruction of brain cells. Later on, the patients experience hallucinations, epileptic seizures, dementia and, finally, failure of all motor abilities. In this last stage, the immobile patients must be artificially ventilated. To date, there is no therapy for Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, also called Batten disease), so patients pass away in their teens or twenties. Four years ago, the working group lead by Dr. Mika Ruonala started their research at the Center for Membrane Proteomics of the Goethe University to study the consequences of the underlying genetic defect on the whole complex network of cellular proteins., In the meantime, by studying a JNCL mouse model with a novel method of fluorescence microscopy the scientists have detected several 'biomarkers' that can now be used in search for screening for potentially active drugs in cooperation with the Harvard Medical School in Boston, USA.

"A prerequisite for a large-scale screen for active ingredients is to have an understanding of the global effects that the genetic defect has on the complex network of the cells' proteins. Consequent validation of the changes in the protein networks provides new possibilities for drug-based intervention" explains Dr. Mika Ruonala. "Analogously with the gene defect it is equally important to understand the global effect a drug has on the complete protein network. A drug that solves a problem in one area may lead to serious adverse events in other areas. It is therefore important to proof the effects of a drug with as many criteria as possible." The visua
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Contact: Dr. Mika Ruonala
Ruonala@em.uni-frankfurt.de
49-697-982-9463
Goethe University Frankfurt
Source:Eurekalert  

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