Wood Richard J
Mineral Bioavailability Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA 02111, USA.
Nutr Rev. 2002 May;60(5 Pt 1):144-8. doi: 10.1301/00296640260093814.
Studies of the molecular function of HFE, the protein defective in hereditary hemochromatosis, have provided important insights into the control of intestinal iron absorption. A recent study suggests that HFE controls the recycling rate of the transferrin receptor and thereby ultimately controls the iron status of the enterocyte. In hereditary hemochromatosis, a defect in HFE causes relative iron starvation in the enterocyte leading paradoxically to the development of an "anemic" enterocyte phenotype in the midst of bountiful body iron stores. Despite ever-increasing stores of body iron, the inappropriately low iron status of the hereditary hemochromatosis enterocyte continues to drive the hyper-absorption of dietary iron, eventually leading to iron overload.
对遗传性血色素沉着症中缺陷蛋白HFE的分子功能研究，为肠道铁吸收的调控提供了重要见解。最近一项研究表明，HFE控制转铁蛋白受体的循环速率，从而最终控制肠细胞的铁状态。在遗传性血色素沉着症中，HFE缺陷导致肠细胞相对铁饥饿，这看似矛盾地导致在体内铁储备丰富的情况下出现“贫血”肠细胞表型。尽管体内铁储备不断增加，但遗传性血色素沉着症肠细胞中铁状态异常低下，持续驱动膳食铁的过度吸收，最终导致铁过载。
