[Molecular basis of hereditary hemochromatosis].
Hereditary hemochromatosis (HH) is a genetic metabolic disease characterized by increased intestinal iron absorption and progressive iron loading in the cells of various organs. Human body iron homeostasis involves a number of complicated processes, some of which are not identified yet. Genetic analysis of patients affected by HH recently led to the discovery of many novel proteins and mechanisms that can influence the uptake, transport, storage, and excretion of iron. It also showed that hemochromatosis is a very complex disease and that the type of mutation can influence its clinical manifestation. This review presents the current knowledge about the mechanisms of iron metabolism and describes the types of hereditary hemochromatosis and the mutations which induce the disease.
Romanowski
Tomasz
T
Pracownia Diagnostyki Molekularnej, Miedzyuczelniany Wydział Biotechnologii Uniwersytetu Gdańskiego i Akademii Medycznej w Gdańsku.
Sikorska
Katarzyna
K
Bielawski
Krzysztof Piotr
KP
D000818:Animals; D023181:Antimicrobial Cationic Peptides / Q000378:metabolism; D027682:Cation Transport Proteins / Q000378:metabolism; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism*; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I / Q000378:metabolism; D006801:Humans; D007501:Iron / Q000378:metabolism / Q000493:pharmacokinetics; D008565:Membrane Proteins / Q000378:metabolism; D009154:Mutation; D011990:Receptors, Transferrin / Q000378:metabolism; D000098742:Ferroportin
D023181:Antimicrobial Cationic Peptides; D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin; D007501:Iron