Molecular basis of iron-loading disorders

Darshan, Deepak, Frazer, David M. and Anderson, Gregory J. (2010) Molecular basis of iron-loading disorders. Expert Reviews in Molecular Medicine, 12 1-22. doi:10.1017/S1462399410001687


Author Darshan, Deepak
Frazer, David M.
Anderson, Gregory J.
Title Molecular basis of iron-loading disorders
Journal name Expert Reviews in Molecular Medicine   Check publisher's open access policy
ISSN 1462-3994
Publication date 2010-11
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1017/S1462399410001687
Open Access Status
Volume 12
Start page 1
End page 22
Total pages 22
Place of publication Cambridge, United Kingdom
Publisher Cambridge University Press
Language eng
Abstract Iron-loading disorders (haemochromatosis) represent an important class of human diseases. Primary iron loading results from inherited disturbances in the mechanisms regulating intestinal iron absorption, such that excess iron is taken up from the diet. Body iron load can also be increased by repeated blood transfusions (secondary iron loading), usually as part of the treatment for various haematological disorders. In these syndromes, an element of enhanced iron absorption is also often involved. The central regulator of body iron trafficking is the liver-derived peptide hepcidin. Hepcidin limits iron entry into the plasma from macrophages, intestinal enterocytes and other cells by binding to the sole iron-export protein ferroportin, and facilitating its removal from the plasma membrane. Mutations in hepcidin or its upstream regulators (HFE, TFR2, HFE2 and BMP6) lead to reduced or absent hepcidin expression and a concomitant increase in iron absorption. Mutations in ferroportin that prevent hepcidin binding produce a similar result. Increased ineffective erythropoiesis, which often characterises erythrocyte disorders, also leads to reduced hepcidin expression and increased absorption. Recent advances in our understanding of hepcidin and body iron homeostasis provide the potential for a range of new diagnostic and therapeutic tools for haemochromatosis and related conditions.
Keyword Regulates hepcidin expression
Protease matriptase-2 TMPRSS6
Genome-wide association
Transferrin Receptor 2
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ
Additional Notes Article # e36

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: School of Medicine Publications
 
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