Tauroursodeoxycholic acid: Relieving the pathogenesis of HFE C282Y hereditary hemochromatosis
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 کاملHFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this...
متن کاملHow mutant HFE causes hereditary hemochromatosis.
In this issue of Blood, Wu et al describe the molecular function of HFE, the gene most commonly mutated in hereditary hemochromatosis (HH). HH is the most frequent genetic disorder of the Western world. The authors show that HFE prevents ubiquitination and proteasomal degradation of bone-morphogenetic protein (BMP) receptor type I (Alk3), thereby increasing expression of this receptor on the ce...
متن کاملMolecular pathogenesis of hereditary hemochromatosis.
Hereditary hemochromatosis (HH) is an inherited iron overload disorder characterized by normal iron-driven erythropoiesis and abnormal iron metabolism, leading to excess iron deposited in parenchymal cells of liver, heart, and endocrine glands. Iron hormone, hepcidin, plays a critical role in iron homeostasis through interaction with ferroportin (FPN), a major cellular iron exporter. Hepcidin i...
متن کاملHereditary hemochromatosis since discovery of the HFE gene.
BACKGROUND Hereditary hemochromatosis is an inherited disorder of iron metabolism that is characterized by excessive iron deposition in major organs of the body. Chronic increased iron absorption leads to multiorgan dysfunction. Since the discovery of the gene responsible for the majority of cases, research has progressed rapidly to identify the gene product, the effects of mutations, and the i...
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ژورنال
عنوان ژورنال: Hepatology
سال: 2008
ISSN: 0270-9139,1527-3350
DOI: 10.1002/hep.22155