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Prof. Jacques P. TremblayCAFA IS LAUNCHING A MAJOR RESEARCH PROJECT

August 25, 2010 - Friedreich ataxia is caused by a mutation of the frataxin gene. This mutation triggers a decrease in the production of frataxin in all the patient’s cells. Frataxin plays an important role in the metabolism of iron at the mitochondrial level and its reduction brings about the death of many cells in the brain, heart, muscles and pancreas. This cell death is responsible for the many symptoms of the illness.

This research project’s goal is to develop a therapy for Friedreich ataxia by targeting the actual cause of the illness, the reduction of frataxin. The project will therefore aim to administer the frataxin protein intravenously. However, as this protein does not spontaneously penetrate cells, it will be encapsulated with peptides (fragments of other proteins), in nanoparticles. Alternatively, the frataxin protein itself will be modified by adding peptides which will allow the proteins to penetrate not only the interior of cells, but also the interior of the mitochondria.

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