Research highlight

Gene therapy for Friedreich’s ataxia

Nature Medicine

April 7, 2014

A gene therapy method corrects the heart defects in a mouse model of Friedreich’s ataxia-which damages both the heart and the nervous system and leads to movement problems. These findings, published this week in Nature Medicine, have potential application for the therapy of individuals with Friedreich’s ataxia.

Individuals with Friedreich’s ataxia harbor mutations in the gene encoding frataxin, an essential mitochondrial protein, and have a variety of symptoms, including neurodegeneration, cardiomyopathy and diabetes. The major cause of mortality in these individuals is heart failure.

Using mice lacking frataxin in the heart, Helene Puccio and her colleagues demonstrate that frataxin gene therapy can correct mitochondrial metabolism and reverse heart damage, raising the possibility of a gene therapy treatment for this disease.

doi: 10.1038/nm.3510

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