Simpson Robert J, Debnam Edward S, Laftah Abas H, Solanky Nita, Beaumont Nick, Bahram Seiamak, Schümann Klaus, Srai S Kaila S
Department of Life Sciences, King's College London, England.
Blood. 2003 Apr 15;101(8):3316-8. doi: 10.1182/blood-2002-10-3112. Epub 2002 Dec 5.
Hereditary hemochromatosis is a common iron-loading disorder found in populations of European descent. It has been proposed that mutations causing loss of function of HFE gene result in reduced iron incorporation into immature duodenal crypt cells. These cells then overexpress genes for iron absorption, leading to inappropriate cellular iron balance, a persistent iron deficiency of the duodenal mucosa, and increased iron absorption. The objective was to measure duodenal iron content in Hfe knock-out mice to test whether the mutation causes a persistent decrease in enterocyte iron concentration. In both normal and Hfe knock-out mice, duodenal nonheme iron content was found to correlate with liver iron stores (P <.001, r = 0.643 and 0.551, respectively), and this effect did not depend on dietary iron levels. However, duodenal iron content was reduced in Hfe knock-out mice for any given content of liver iron stores (P <.001).
遗传性血色素沉着症是一种在欧洲裔人群中常见的铁负荷紊乱疾病。有人提出，导致HFE基因功能丧失的突变会使铁掺入未成熟十二指肠隐窝细胞的过程减少。这些细胞随后会过度表达铁吸收相关基因，导致细胞内铁平衡失调、十二指肠黏膜持续缺铁以及铁吸收增加。研究目的是测量Hfe基因敲除小鼠的十二指肠铁含量，以检验该突变是否会导致肠上皮细胞铁浓度持续降低。在正常小鼠和Hfe基因敲除小鼠中，均发现十二指肠非血红素铁含量与肝脏铁储备相关（P <.001，r分别为0.643和0.551），且这种效应不依赖于饮食中铁的水平。然而，对于任何给定的肝脏铁储备含量，Hfe基因敲除小鼠的十二指肠铁含量均降低（P <.001）。
