Gene therapy corrects the cardiac effects of Friedreich’s ataxia

Gene therapy was successfully used to overcome the cardiac effects of Freidreich’s ataxia (FA) in a mouse model of the disease, as reported in the peer-reviewed journal Human Gene Therapy.

Researchers at Weill Cornell Medical College created a unique, cardiac-specific mouse model of FA that is similar to early stage human disease. The mice are normal at rest but exhibit stress-induced cardiac symptoms, such as when they exercise on a treadmill.

In the article “Stress-induced Mouse Model of the Cardiac Manifestations of Friedreich’s Ataxia Corrected by AAV-mediated Gene Therapy,” the treated mice received a one-time intravenous dose of adeno-associated virus (AAV) gene therapy to deliver the frataxin gene, which is deficient in FA. These mice exhibited exercise performance on a treadmill that was indistinguishable from their healthy littermates.

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