Iron is an essential mineral in the human diet because it is needed for the blood cells to carry oxygen. Unfortunately, too much iron accumulates in the bodies of people who have inherited the genetic disorder, hemochromatosis, and this can interfere with the function of many of the body’s essential organs, resulting in some kinds of heart disease and of diabetes. Now, a study reported in the January issue of Nature Genetics identifies a protein important in regulating iron stores in the body.
Dr George Papanikolaou at Laikon General Hospital in Athens with Dr Michael R Hayden and his colleagues at Xenon Genetics and the Department of Medical Genetics and at the University of British Columbia, studied the inheritance of the disease within several affected families in Greece, Canada and France and found that the gene for one particular protein was damaged in many of the affected individuals. The novel protein, Hemojuvelin, modulates the expression of another protein, Hepcidin, that was already known to be involved in controlling iron levels and to be altered in cases of hemochromatosis.
This disorder was recognized in ancient times, and the traditional treatment, blood-letting, led to medieval physicians being known colloquially as “leeches”. Modern treatment also aims to remove the excess iron from the blood, but unfortunately, these therapies can be costly and may cause further complications in patients. The identification of proteins that control iron stores is likely eventually to enable research into novel therapies.
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(C) Nature Genetics press release.
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