Through informal discussions and meetings over the past year or so, a concerted effort has been made not to waste resources duplicating research efforts apart from areas where it is essential to confirm exciting findings. This has ensured that we have made the best progress possible and as you will see from the meeting report we aim to continue in this collaborative cooperative manner. A bit of background first. Friedreich's ataxia is due to faults in the gene known as FRDA, which produces the protein frataxin. Last year it was found that if the yeast equivalent of frataxin is knocked out in the yeast, iron accumulates in the mitochondria.
Mitochondria are the energy sources for cells.
Other evidence for the involvement of mitochondrial iron include the abnormalities in enzymes from the mitochondria in heart muscle from people with Friedreich's ataxia as well as the finding of iron deposits in heart muscle. These tissues are known to be affected in patients with FRDA but are not readily accessible from patients to check the effect of therapies. The first presentation was from Professor Massimo Pandolfo from Montreal who laid the foundation for the rest of the meeting. He elegantly summarized the current status of research findings and highlighted areas where further work was required to confirm preliminary results. A particular focus was a discussion about the evidence for mitchondrial iron build up underlying Friedreich's ataxia.