Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis.
نویسندگان
چکیده
We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.
منابع مشابه
Hepcidin is decreased in TFR2 hemochromatosis.
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متن کاملImmunoassay for human serum hepcidin.
We developed and validated the first serum enzyme-linked immunosorbent assay for hepcidin, the principal iron-regulatory hormone that has been very difficult to measure. In healthy volunteers, the 5% to 95% range of hepcidin concentrations was 29 to 254 ng/mL in men (n = 65) and 17 to 286 ng/mL in women (n = 49), with median concentrations 112 versus 65 (P < .001). The lower limit of detection ...
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ورودعنوان ژورنال:
- Haematologica
دوره 92 1 شماره
صفحات -
تاریخ انتشار 2007