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Patients and scientists join forces to tackle Friedreich's Ataxia
Date:11/14/2013

ALTERED GENE

The German physician Nicholas Friedreich described the disease for the first time around 1860. Friedreich's Ataxia is a disease that affects the nervous system and for which there is no cure or specific treatments. Although Friedreich's Ataxia is the most common kind of ataxia, it is a rare condition. It affects approximately 2 in every 100,000 people of European origin (Caucasians). In Spain and France the incidence of this disease is higher, with a prevalence of 4.7 cases per 100,000 population, suggesting that this disease probably originated in the geographic area of the Cantabrian mountain range.

Friedreich's Ataxia normally appears before the ages of 5 and 25, causing progressive loss of balance, coordination and movement. About ten years after the onset of the first symptoms, those affected usually become wheelchair-bound. Life expectancy is severely reduced, above all when there are serious secondary complications, such as progressive cardiomyopathy.

RESTORING THE FRATAXIN GENE THROUGH GENE THERAPY

In 1996, an international group of scientists identified the cause of Friedreich's Ataxia as a defect in a gene that codes for the protein frataxin, located in chromosome 9. One of the most promising strategies to correct the low cellular levels of this protein is through gene therapy, by attempting to introduce a correct copy of the gene into cell nuclei.

"We have fully isolated the gene and packaged it in transport vectors or "vehicles" and we have tested its efficiency in patient cells in vitro. Now we have to improve transport to the cells of the nervous system and test the efficiency in mice with ataxia," explains Javier Daz-Nido, head of the group "Neuronal repair and molecular therapy in neurodegeneration. Spinocerebellar Ataxias" at the CBMSO, a centre comprising the "Universidad Autnoma de Madrid" and the CSIC, and that is also a member of the Centre for Biomedical Network Research on
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Contact: Sònia Armengou
armengou@irbbarcelona.org
34-934-037-255
Institute for Research in Biomedicine (IRB Barcelona)
Source:Eurekalert  

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