Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-HH as a liver disease with the primarily failure in the production of the liver iron hormone hepci...

Hereditary hemochromatosis (HH) is a common disorder of iron metabolism caused by mutation in HFE, a gene encoding an MHC class I-like protein. Clinical studies demonstrate that the severity of iron loading is highly variable among individuals with identical HFE genotypes. To determine whether genetic factors other than Hfe genotype influence the severity of iron loading in the murine model of ...

Hereditary hemochromatosis (HH) is an autosomal recessive disease that leads to parenchymal iron accumulation. The most common form of HH is caused by a single amino acid substitution in the HH protein, HFE, but the mechanism by which HFE regulates iron homeostasis is not known. In the absence of transferrin (Tf), HFE interacts with transferrin receptor 1 (TfR1) and the 2 proteins co-internaliz...

Excess manganese (Mn) is neurotoxic. Increased manganese stores in the brain are associated with a number of behavioral problems, including motor dysfunction, memory loss and psychiatric disorders. We previously showed that the transport and neurotoxicity of manganese after intranasal instillation of the metal are altered in Hfe-deficient mice, a mouse model of the iron overload disorder heredi...

Hereditary hemochromatosis is caused by mutations in the hereditary hemochromatosis protein (HFE), transferrin-receptor 2 (TfR2), hemojuvelin, hepcidin, or ferroportin genes. Hepcidin is a key iron regulator, which is secreted by the liver, and decreases serum iron levels by causing the down-regulation of the iron transporter, ferroportin. Mutations in either HFE or TfR2 lower hepcidin levels, ...

国際人間工学連合は人間工学（HFE；Human Factors and Ergonomics）のコア・コンピテンシーを改訂した．HFEの改訂コア・コンピテンシーの単位は7領域に集約・再整理され，システムズアプローチ視点がより強調される形となっている．改訂コア・コンピテンシーに基づき，今，社会の要請に応えるHFE専門家を育成するために必要と考えられるリサーチ・イシューとして，1）ステークホルダ関与に基づく解決策の提案，2）システムズアプローチに基づくシステム要素の調和，そして3）HFE主導による，あるべき近未来労働・生活様式ビジョンの策定，の3つのポイントを提案した．これらはHFEの世界的な動向を鑑み，国内のHFE研究者，実務者，専門家が今，学び，実践すべき重要なリサーチ・イシューである．

PURPOSE Hereditary hemochromatosis is an autosomal recessive disorder of iron overload leading to oxidative stress. Mutations in HFE are responsible for approximately 90% of cases of this disease. HFE is the principal regulator of iron homeostasis, and the process involves interaction with transferrin receptor (TfR)-1, transferrin receptor (TfR)-2, and beta2-microglobulin (beta2M). Expression o...

Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE...