Proteomic of iron metabolism

Proteomic of iron metabolism

team-item

Head of Unit

Sonia Levi

MORE

The unit studied, from a functional, structural and immunological standpoint, proteins involved in iron metabolism and diseases associated with them. In recent years, the main research lines followed in the unit are focused to the study of mitochondrial iron metabolism and the understanding of the role of iron in neurodegenerative processes.

Research activity

In particular, researchers are continuing the studies regarding the physiological role of mitochondrial ferritin. The structural, biochemical and functional protein has shown that, despite the similarities with the best studied cytosolic ferritin, it has some special features useful to the maintenance of homeostasis of mitochondrial iron.

More recently the group dealt with the development of cellular and animal models for the study of diseases characterized by the presence of brain iron accumulation, or NBIA (Neurodegeneration with Brain Iron Accumulation). Several genes have been identified as causative of NBIA, pathologies classified as extrapiramidal movement disorders with variable age of onset. The aim is to identify, from the different forms of NBIA, the probable common pathological events that give rise to the brain iron accumulation phenotype. Presently the group is studying the iron metabolism alterations in patients suffering from PKAN, which is the most frequent form between the NBIA and caused by mutation in PANK2. Also neuroferritinopathy is examined, which is caused by mutations in the ferritin L gene.

The unit is using the cellular reprogramming methodologies to develop new human neuronal models, useful to examine the alteration of the iron metabolism in these pathologies. Proteominc of iron metabolism Unit obtained and characterized neurons induced pluripotent stem cells (hiPSC) derived from patients suffering from PKAN and neuroferritinopathy. These new models represent a powerful in vitro model system in which to investigate and dissect early molecular events, eventually accumulating and giving rise to degeneration or death of neuronal cells. These studies allow to identify possible therapeutic targets and to test in vitro efficacy of specific compounds.