Martina Muckenthaler

Head of Molecular Medicine | University of Heidelberg

Martina Muckenthaler’s research focuses on regulatory mechanisms of iron homeostasis and their impairment in common disorders of iron metabolism. Millions of patients worldwide suffer from either iron overload or iron deficiency. There are still large gaps in our understanding of the molecular mechanisms at the root of these disorders; consequently, effective treatment strategies are scarce. We focus on the regulatory mechanisms of systemic iron homeostasis, controlled by the iron-regulated hormone hepcidin and its receptor ferroportin. In order to successfully treat disorders of iron metabolism, we must prevent both excessive hepcidin expression, which causes iron deficiency anemia, and hepcidin deficiency, which leads to common iron overload disorders. To understand the regulation of hepcidin expression, we use system/network-based analyses and integrate data from transcriptome and proteome analyses with examinations of mouse model, as well as genome-wide functional RNAi screens. We expect our studies to contribute to clinical progress through methods such as drug repurposing or the identification of biomarkers with diagnostic and prognostic relevance.

Principal Investigator

Further information

Research interest
Field of Expertise
International experience
Selected publications
Complete list of publications
Contact details

Research interest

Adaptation to life in the low-oxygen environment at high-altitude.
How do haemoglobin and iron levels change at high altitude

Field of Expertise

Iron metabolism, hematology

International experience

since 2019 President of International BioIron Society
2018 Chair of the Scientific program Committee of the European Hematology Association
since 2018 Advisor for the Ministry of Health of the Slovak Republic
2017 Chair of the Scientific Committee of the American Society of Hematology, ‘Iron and Heme’
2015 – 2018 Elected Executive Board Member of the European Hematology Association
2014 – 2017 Chair of the Fellowship and Grant Committee of the European Hematology Association
2012 – 2016 Scientific Committee member of the American Society of Hematology
2012 – 2015 Elected Board Member of the European Hematology Association
2009 – 2013 Elected Director of the International BioIron Society
since 2009 GABBA PhD program on Basic and Applied Biology, Porto, Portugal

Selected publications

  1. Vinchi, F., Porto, G., Simmelbauer, A., Altamura, S., Passos, S.T., Garbowski, M., Silva, A.M.N., Spaich, S., Seide, S.E., Sparla, R., Hentze, M.W., Muckenthaler, M.U. (2019). Atherosclerosis is aggravated by iron overload and ameliorated by dietary and pharmacological iron restriction. European heart journal, 2019 Mar 20. pii: ehz112. doi: 10.1093/eurheartj/ehz112.
  2. Muckenthaler, M.U., Rivella, S., Hentze, M.W., Galy, B. (2017). A Red Carpet for Iron Metabolism. Cell 168, 344-361.
  3. Neves, J., Leitz, D., Kraut, S., Brandenberger, C., Agrawal, R., Weissmann, N., Mühlfeld, C., Mall, M.A., Altamura, S., Muckenthaler, M.U. (2017). Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease. EBioMedicine 20, 230-239.
  4. Vinchi, F., Costa da Silva, M., Ingoglia, G., Petrillo, S., Brinkman, N., Zuercher, A., Cerwenka, A., Tolosano, E., Muckenthaler, M.U. (2016). Hemopexin therapy reverts heme-induced proinflammatory phenotypic switching of macrophages in a mouse model of sickle cell disease. Blood 127, 473-486.
  5. Muckenthaler, M., Roy, C.N., Custodio, A.O., Miñana, B., deGraaf, J., Montross, L.K., Andrews, N.C., Hentze, M.W. (2003). Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet 34, 102-107.

Contact details

Address:

Klinik Kinderheilkunde III: Onkologie, Hämatologie, Immunologie und Pulmonologie
Im Neuenheimer Feld 350
69120 Heidelberg

Phone: +49 6221 56-6923

Email of assistant: Sylvia.Hulin@med.uni-heidelberg.de

Sarah Steinbach
Angelo Genovese
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