Iron metabolism, regulation and disease
Study of the role of iron in certain diseases
Without iron, there is no blood. Hence the importance of studying its presence to see how it affects certain blood diseases. Iron deficiency leads to anemia while iron overload is bad for bone marrow transplants and for the liver (it can cause cirrhosis).
There is a subgroup of myelodysplastic syndromes which are characterised by iron overload. At the present time, we do not know what the totality of genes is that regulates these iron anomalies that are present in both childhood genetic diseases as well as in myelodysplastic syndromes in adults.
Why do we need to investigate?
It is very important to understand the mechanisms that regulate iron metabolism in order to see how they affect certain diseases. The group has two main lines of research:
- Genetic diagnosis of rare diseases. This study makes it possible to delve deeper into these mechanisms and to apply the discoveries made to diseases such as myelodysplastic syndromes.
- Basic research is needed on new genes which, a priori, have nothing to do with iron metabolism, but which have been shown to be regulated by iron metabolism proteins (IRP). What needs to be determined is which of all the genes in the genome are those that bond with the IRP1 or IRP2 proteins.
The impact of our work
The study of genes and their importance in patients is crucial for a better understanding of the mechanisms involved in blood diseases. If we can understand these mechanisms, we might be able to prevent the diseases from developing.
Josep Carreras Leukaemia Research Institute Dossier
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