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Tracing tissue damage and the adaptive response in rare hereditary haemochromatosis for the identification of specific therapeutic targets

17th national competition for scientific and technical research

Rare diseases

Senior Researcher : José Manuel Bautista Santa Cruz

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Research Centre or Institution : Instituto de Investigación Hospital 2 de Octubre. Madrid.


Hereditary haemochromatosis (HH) is characterised by iron overload in a wide range of organs. Different mutations in several independent locations of the human genome give rise to different types of recessive autosomic HH (HH1, HH2 and HH3) or a dominant form (HH4). Rare haemochromatoses are mainly of the HH2, HH3 and HH4 types. A very limited therapeutic arsenal exists against the different presentations of HH and it is basically aimed at eliminating iron from the organism by means of regular phlebotomies or iron chelation. Nevertheless, there are no specific therapies to protect against and/or attenuate the adverse effects of iron overload in different organs, in juvenile forms as well as later presentation in adults. This is due to limited knowledge regarding iron-overload induced cellular damage and its specific phenotypical alteration in the organs and tissues affected by HH. Within this context the project has three aims. Firstly: massive tracing of global alterations in the proteome and transcriptomein tissues affected by iron overload. Second: typification of different immune responses in HH. Third: exploration of adaptation / epigenetic response mechanisms to iron deposits. These aims will be met by using preclinical models of mice which are carriers of polymorphisms that cause HH, and results will be validated by analysis using samples of patients with rare HH that, overall, will make it possible to discover specific biomarkers of disease progress and, potentially, to design specific therapies against tissue damage in HH.

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