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Ray of hope for human Usher syndrome patients
Date:12/4/2012

pthalmology & Visual Science. During her doctoral research, Dr. Nora Overlack managed to repair the USH1C gene with the help of molecular scissors' generated using the so-called zinc-finger nuclease technique. Using zinc-finger nuclease, the scientists first initiated a double sequence DNA cleavage at the site of the disease-generating mutation. This surgical incision on the molecular level was then repaired by means of the cell's own repair mechanism in the form of homologous recombination and the introduction of a non-mutated USH1C DNA sequence. The mutated gene sequence was thus replaced with the non-mutated sequence. The efficacy of the zinc-finger nuclease technique with regard to genetic repair was demonstrated in a cell culture model at both the genome and the protein level.

The research team has also recently published the latest results of its pharmaco-genetic approach to the treatment of Usher syndrome patients with nonsense mutations in the journal EMBO Molecular Medicine. In this case, Dr. Tobias Goldman and the other team members compared various molecules that can induce read-through of the stop signal and thus provide for normal protein synthesis. In addition, they evaluated the retinal biocompatibility of the various molecules. The research focused on PTC124 (Ataluren) and 'designer' aminoglycosides. These aminoglycosides are derived from clinically tested antibiotics and have been modified by Professor Dr. Timor Bassov of the Technicon in Haifa/Israel to improve their capacity to read-through the mutation and reduce their toxicity. The Mainz researchers had already been successful in using one of the first generation designer aminoglycosides to read-through the nonsense mutations in the USH1C gene.

They were now able to show that PTC124 (Ataluren) and a second generation aminoglycoside (NB54) in particular would induce read-through of the stop signal in the mutated USH1C gene. This meant that protein synthesis continued, so
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Contact: Dr. Kerstin Nagel-Wolfrum
nagelwol@uni-mainz.de
49-613-139-20131
Johannes Gutenberg Universitaet Mainz
Source:Eurekalert

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