Mechanism elucidated for a rare disease

Scientists at the Friedrich Miescher Institute for Biomedical Research (FMI, part of the Novartis Research Foundation) have dissected one of the molecular mechanisms underlying Friedreich's ataxia. In doing so, they have shed new light on the pathogenic mechanism of the disease. These findings could lead to the development of new therapeutic approaches for what is, as yet, an incurable condition. The results of the study were recently published in the journal EMBO Molecular Medicine . The defective gene responsible for Friedreich's ataxia was identified over 20 years ago, but so far our ideas of how this gene causes the disease have been merely speculative. It was assumed that, as a result of the mutation, the gene could no longer be transcribed because this stretch of DNA was inaccessible. FMI Group Leader Marc Bühler and his team have now carried out experiments demonstrating that this is not the case and revealing what actually happens in Friedreich's ataxia.