Discovery of the hemochromatosis gene will require rethinking the regulation of iron metabolism.
The identity of the protein responsible for hemochromatosis, the iron overload disease, has eluded scientists for years. However, a recent report identifies the gene where the hemochromatosis defect lies. It is a gene that encodes a major histocompatibility complex (MHC) class-1-like protein called HLA-H. The mechanism by which an HLA-H defect alters iron metabolism is still unidentified. However, this new discovery will certainly ignite a new wave of study into the physiology of iron metabolism and its regulation.
Fleet
J C
JC
Jean Mayer Human Nutrition Research Center on Aging, Tufts University, Boston MA 02111, USA.
D000818:Animals; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D004195:Disease Models, Animal; D008040:Genetic Linkage; D006680:HLA Antigens / Q000502:physiology; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000502:physiology; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins; D051379:Mice; D009154:Mutation
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; C499535:Hfe protein, mouse; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron