The ceruloplasmin mutant R701W, that causes a dramatic phenotype in the young heterozygous patient carrying this mutation, has been shown to have profound effects also in cell culture models. Here we show that Golgi rearrangement and degradation of the iron exporter ferroportin, that follow transfection of cells with this mutant, are accompanied by the massive production of reactive oxygen species (ROS) in the cell. Scavenging ROS production with different antioxidants, including reduced glutathione and zinc, restores Golgi morphology and rescues ferroportin on the cell membrane.
Persichini, T., De Francesco, G., Capone, C., Cutone, A., Bonaccorsi di Patti, M.c., Colasanti, M., et al. (2012). Reactive oxygen species are involved in ferroportin degradation induced by ceruloplasmin mutant Arg701Trp. NEUROCHEMISTRY INTERNATIONAL, 60(4), 360-364 [10.1016/j.neuint.2012.01.010].