Hemochromatosis protein HFE C282Y conformational considerations
نویسندگان
چکیده
منابع مشابه
Preeclampsia and the C282Y mutation in the hemochromatosis (HFE) gene.
To the Editor: The hemochromatosis (HFE) gene encodes the HFE protein, a transmembrane glycoprotein that is implicated in the modulation of iron uptake from the diet (1 ). The C282Y mutation in this gene is known to be associated with moderately increased serum iron indices. Recently, several studies have described an association between increased maternal iron status and an unfavorable pregnan...
متن کاملIncreased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer.
Individuals with the major hemochromatosis (HFE) allele C282Y and iron overload develop hepatocellular and some extrahepatic malignancies at increased rates. No association has been previously reported between the C282Y allele and breast cancer. We hypothesized that due to the pro-oxidant properties of iron, altered iron metabolism in C282Y carriers may promote breast carcinogenesis. Because 1 ...
متن کاملIron absorption by heterozygous carriers of the HFE C282Y mutation associated with hemochromatosis.
BACKGROUND Research conducted before genotyping was possible suggested that subjects heterozygous for the genetic mutation associated with hemochromatosis absorbed nonheme iron more efficiently than did control subjects when tested with a fortified meal. Heme-iron absorption in these subjects has not been reported. OBJECTIVE We compared the absorption of heme and nonheme iron from minimally o...
متن کاملHFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.
UNLABELLED The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stra...
متن کاملAutoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives
We performed a retrospective study of autoimmune conditions (ACs) in 235 hemochromatosis probands at diagnosis by analyzing age, sex, ACs, history of first-degree family members with ACs (FH), diabetes, heavy ethanol consumption, elevated serum ALT/AST, nonalcoholic fatty liver disease, viral hepatitis, cirrhosis, iron removed to achieve iron depletion (QFe), and positivity for human leukocyte ...
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ژورنال
عنوان ژورنال: Hepatology
سال: 2010
ISSN: 0270-9139
DOI: 10.1002/hep.23557