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The HFE H63D is a single-nucleotide polymorphism in the HFE gene (c.187C>G, rs1799945), which results in the substitution of a histidine for an aspartic acid at amino acid position 63 of the HFE protein (p.His63Asp). HFE participates in the regulation of iron absorption. [1] [2] [3] Homozygous H63D variant can occasionally be the cause of ...
The gene involved with patients diagnosed with type 3 hemochromatosis is TFR2 ( or HFE3). HFE (not the same as HFE3) is most often the cause of hereditary hemochromatosis. [14] The HFE gene provides instructions for producing a protein that is located on the surface of cells, primarily liver and intestinal cells.
There are five types of hereditary hemochromatosis: type 1, 2 (2A, 2B), 3, 4 [9] and 5, [10] all caused by mutated genes. Hereditary hemochromatosis type 1 is the most frequent, and uniquely related to the HFE gene. It is most common among those of Northern European ancestry, in particular those of Celtic descent. [11]
It is possible to delete part or all of a gene of interest in mice (or other experimental animals) as a means of studying function of the gene and its protein. Such mice are called “knockouts” with respect to the deleted gene. Hfe is the mouse equivalent of the human hemochromatosis gene HFE. The protein encoded by HFE is Hfe.
These mutations lead to a defect in the localization of ferroportin. Gain-of-function mutations are associated with type 4B and lead to production of ferroportin that resists negative regulation by hepcidin. [8] [9] Unlike other forms of hemochromatosis, which have a recessive pattern of inheritance, type 4 is an autosomal dominant dominant ...
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Juvenile hemochromatosis can be caused by inheriting two mutated copies , one from each parent, of the genes for the proteins hemojuvelin (HFE2/HJV) or hepcidin (HAMP), and the disease can be subdivided into hemochromatosis types 2A and 2B according to which gene/protein is affected. [2] [3]
Hemojuvelin is highly expressed in skeletal muscle and heart, and to a lesser extent in the liver. One insight into the pathogenesis of juvenile hemochromatosis is that patients have low to undetectable urinary hepcidin levels, suggesting that hemojuvelin is a positive regulator of hepcidin, the central iron regulatory hormone. As a result, low ...