Genetic Polymorphisms 2017
DOI: 10.5772/intechopen.69507
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Hepcidin: SNP-Like Polymorphisms Present in Iron Metabolism and Clinical Complications of Iron Accumulation and Deficiency

Abstract: The metabolism of iron is regulated by the peptide hormone hepcidin. Genetic alterations in the proteins involved in the signalling pathway and hepcidin transcription cause damage to the organism. Mutations and polymorphisms in the hepcidin antimicrobial peptide(HAMP), HFE, HJV, ferroportin and matriptase-2 genes influence serum hepcidin concentration. Genetic deficiency of hepcidin increases iron overload in tissues, leading to haemochromatosis. However, genetics changes in the TMPRSS6 gene promote an increas… Show more

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Cited by 3 publications
(6 citation statements)
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“…The Fe 3+ /Fe 2+ redox potential participates in a large number of protein complexes, especially those that involve oxygen reduction for adenosine triphosphate (ATP) synthesis and the reduction of DNA precursors. Iron is also a necessary component in the formation of molecules that bind and transport oxygen (hemoglobin and myoglobin) and for the activities of cytochrome enzymes, as well as in many enzymes that perform the redox process, functioning as electron carriers [ 83 , 84 , 85 ].…”
Section: Ferroptosismentioning
confidence: 99%
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“…The Fe 3+ /Fe 2+ redox potential participates in a large number of protein complexes, especially those that involve oxygen reduction for adenosine triphosphate (ATP) synthesis and the reduction of DNA precursors. Iron is also a necessary component in the formation of molecules that bind and transport oxygen (hemoglobin and myoglobin) and for the activities of cytochrome enzymes, as well as in many enzymes that perform the redox process, functioning as electron carriers [ 83 , 84 , 85 ].…”
Section: Ferroptosismentioning
confidence: 99%
“…When necessary, iron stocks are mobilized and exported by ferroportin (FPN). This process is downregulated by hepcidin [ 83 , 84 , 85 ].…”
Section: Ferroptosismentioning
confidence: 99%
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“…While defect in guanine exon 2 at position 93 leads to a mutation in RNA [35], defect in Met50del from exon 2 causes a disorder in the expression of the active peptide and causes changes in reading frames. Another mutation, G71D, alters to amino acid 71, which is between (3-4) cysteine, which prevents linking with ferroportin [36].…”
Section: The Hamp Gene Mutationmentioning
confidence: 99%