In conclusion, we collected multiple findings suggestive of a systemic and cellular iron starvation signature in FA whose severity is determined by the genotype. We provided for the first-time quantitative MRI data on iron storages and parenchyma state in liver, spleen, and pancreas in FA in vivo. Our findings argue against the use of surrogate measures of iron reduction as endpoints in clinical trials. They furthermore show that a stratification according to the genotype is necessary when addressing iron metabolism in FA. Overall, the present findings provide an indispensable clinical ground for the development of iron-targeting therapeutics in FA.
Thursday, May 2, 2024
Genetic Determined Iron Starvation Signature in Friedreich's Ataxia
Grander, M., Haschka, D., Indelicato, E., Kremser, C., Amprosi, M., Nachbauer, W., Henninger, B., Stefani, A., Högl, B., Fischer, C., Seifert, M., Kiechl, S., Weiss, G. and Boesch, S. (2024), Genetic Determined Iron Starvation Signature in Friedreich's Ataxia. Mov Disord. doi:10.1002/mds.29819
