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Systemic Diseases and the Skin
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Jana Kazandjieva, Razvigor Darlenski, Nikolai Tsankov
The different types of hereditary hemochromatosis include Type 1, classic autosomal recessive form HFE-related; Type 2a (mutations of hemojuvelin gene) and Type 2b (mutations of the hepcidin gene), autosomal recessive disease with age of onset—15–20 years; Type 3 (mutations of transferrin receptor-2 gene), autosomal recessive disease with age of onset—30–40 years; and Type 4 (mutations of the ferroprotein gene), autosomal dominant disorder with age of onset—10–80 years.
Case 71
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
A full history is mandatory. The additional history required is his alcohol intake (alcohol can raise the serum ferritin) and whether there is a relevant family history. Hereditary haemochromatosis is due to mutations in the high Fe (HFE) gene and is inherited in an autosomal recessive fashion. In the United Kingdom, it is often seen in individuals of Irish heritage. Hepcidin is a protein synthesized by the liver which lowers the levels of ferroportin present on the portal vein border of intestinal cells. It therefore serves to reduce iron absorption. Hepcidin also reduces release of iron from macrophages to transferrin. HFE, hemojuvelin (HJV) and the minor transferrin receptor 2 TFR2 all control hepcidin synthesis; mutations in any of the corresponding genes can lower hepcidin secretion and lead to iron overload.
Lung cancer: active therapeutic targeting and inhalational nanoproduct design
Published in Expert Opinion on Drug Delivery, 2018
Nasser Alhajj, Chin Fei Chee, Tin Wui Wong, Noorsaadah Abd Rahman, Noor Hayaty Abu Kasim, Paolo Colombo
Transferrin is a non-heme iron-binding globulin dimeric transmembrane glycoprotein (180 kDa). It facilitates the transport of ferric ion (Fe3+) through transferrin receptors. There are two types of transferrin receptor. Transferrin receptor 1 in the majority of normal human tissues at a low expression level and transferrin receptor 2 of which is highly restricted to hepatocytes [69]. The transferrin receptor 1 is a type II receptor located on the cell membranes and cycles into acidic endosomes of the cell in the clathrin/dynamin-dependent pathway [69]. Transferrin receptors are overexpressed on fast multiplying cells, which have a high demand of ferric iron. The transferrin receptor expression on the tumor cell is stated to be about 10 times its expression on normal cells [70]. The upregulation of transferrin receptors has been observed in several malignant tumors including lung [71–73]. The expression of transferrin receptor 1 has been observed in 88% of NSCLC patients [74].
MicroRNA machinery in Parkinson’s disease: a platform for neurodegenerative diseases
Published in Expert Review of Neurotherapeutics, 2022
Recently, investigators have detected that the transferrin/transferrin receptor 2 (TF/TFR2) pathways that lead to iron accumulation in mitochondria are impaired in PD patients.[66] There was a correlation between the miR-221 expression and TFR2 in SH-SY5Y cells treated with MPP. Additionally, the luciferase activity was reduced by 60% in cells treated with the combination of Tk-ren/TFR2 construct and miRNA 221.[39] These observations led to this conclusion that miR-221 can inhibit PD progression through preventing the iron accumulation and its consequences, mainly oxidative stress, which was detectable in neuromelanin neurons of the SN of PD patients.[67]
An unexpected cause of liver cirrhosis and cardiomyopathy in a young man
Published in Acta Clinica Belgica, 2018
Ruben Pauwels, Els Vandecasteele, Daniel Devos, Walter Pauwels, Michel De Pauw
Type 3 hemochromatosis mimics type 1 and is associated with mutations of the transferrin receptor 2 gene. Type 4, also known as ferroportin disease, is associated with mutations in the ferroportin gene and is the only disease entity with a dominant pattern of transmission. Finally, type 5 or hereditary a(hypo)ceruloplasminemia is associated with anemia and neurologic disease [2].