PMID: 16629172Apr 25, 2006Paper

Hereditary hemochromatosis: an opportunity for gene therapy

Biological Research
Fernando EzquerYedy Israel

Abstract

Levels of body iron should be tightly controlled to prevent the formation of oxygen radicals, lipoperoxidation, genotoxicity, and the production of cytotoxic cytokines, which result in damage to a number of organs. Enterocytes in the intestinal villae are involved in the apical uptake of iron from the intestinal lumen: iron is further exported from the cells into the circulation. The apical divalent metal transporter-1 (DMT1) transports ferrous iron from the lumen into the cells, while the basolateral transporter ferroportin extrudes iron from the enterocytes into the circulation. Patients with hereditary hemochromatosis display an accelerated transepithelial uptake of iron, which leads to body iron accumulation that results in cirrhosis, hepatocellular carcinoma, pancreatitis, and cardiomyopathy. Hereditary hemochromatosis, a recessive genetic condition, is the most prevalent genetic disease in Caucasians, with a prevalence of one in 300 subjects. The majority of patients with hereditary hemochromatosis display mutations in the gene coding for HFE, a protein that normally acts as an inhibitor of transepithelial iron transport. We discuss the different control points in the homeostasis of iron and the different mutations that e...Continue Reading

Citations

Jun 5, 2007·Biochemical and Biophysical Research Communications·Lavinia BhattMary W McCaffrey
Sep 18, 2010·Journal of the American College of Cardiology·Pradeep GujjaYukitaka Shizukuda
Apr 10, 2014·Integrative Biology : Quantitative Biosciences From Nano to Macro·Etheresia Pretorius, Douglas B Kell
Feb 8, 2014·Cardiology in Review·Vinay GulatiWilliam H Frishman

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