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Genetic control of the pathogenesis of diseases based on iron accumulation


Two main types of diseases based on iron accumulation will be studied:

1) Chronic systemic iron over-load diseases.
They comprise:
i)HFE Haemochromatosis, which is one of the most frequent hereditary recessive diseases in Europe. It affects female/male subjects both in their quality of life and/or their vital prognosis. It should be emphasized that only a limited percentage (especially for females) of the individuals carrying the genetic hallmark predisposing to the disease (homozygosity for the C282Y mutation) will develop an overt disease, raising the issue of the involvement, beside acquired factors, of genetic factors accounting for this important global and gender phenotypic variability.
ii) Non HFE Hereditary Iron Overload, such as Juvenile Haemochromatosis, Transferrin Receptor2 Haemochromatosis, or the Ferroportin Disease.

2) The Anemia of Chronic Disease, which is the second most common form of anemia worldwide, source of important disability and related to local macrophagic iron accumulation. For both types of diseases, recent data have shed light on the key pathogenic role of hepcidin dysregulation.

The aims of our project are to dissect the mechanisms, both at the genetic and molecular levels, accounting for the development of these body iron misdistributions and for their phenotypic variability. The fact that these two types of situations can be, on a pathophysiological viewpoint, considered as "mirror" conditions constitute a major advantage for our integrated methodological approach which will rest upon animal and cellular models using innovative methodologies as well as upon the study of groups of highly selected patients. The expected improvement in our knowledge of the genetic control of the pathogenesis of these specific diseases should not only provide novel diagnostic markers and new potential therapeutic targets, but also indirectly benefit to the understanding and management of other types of diseases based on disorders of iron metabolism.

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