Hepcidin is a recently identified hormone peptide involved in regulation of iron homeostasis. HAMP gene mutations have been described to date in five families with iron overload. We have identified the c.208T>C (p.C70R) mutation in the HAMP gene in a patient affected by a severe form of hereditary hemochromatosis. The variant, occurring in a highly conserved amino acid, disrupts one of the 4 intramolecular disulphide bonds present in hepcidin molecules of all vertebrates, and is presumably able to destabilize the peptide structure. The investigated patient was also found to harbor a heterozygous HFE c.845G>A (p.C282Y) mutation that may have contributed in increasing his iron burden
HAMP GENE MUTATION C.208T>C (P.C70R) IDENTIFIED IN AN ITALIAN PATIENT WITH SEVERE HEREDITARY HEMOCHROMATOSIS / Majore, S; Binni, Francesco; Pennese, Antonio; DE SANTIS, Adriano; Crisi, A; Grammatico, Paola. - In: HUMAN MUTATION. - ISSN 1059-7794. - STAMPA. - 23:4(2004), pp. 400-408. [10.1002/humu.9232]
HAMP GENE MUTATION C.208T>C (P.C70R) IDENTIFIED IN AN ITALIAN PATIENT WITH SEVERE HEREDITARY HEMOCHROMATOSIS.
BINNI, FRANCESCO;PENNESE, Antonio;DE SANTIS, Adriano;GRAMMATICO, Paola
2004
Abstract
Hepcidin is a recently identified hormone peptide involved in regulation of iron homeostasis. HAMP gene mutations have been described to date in five families with iron overload. We have identified the c.208T>C (p.C70R) mutation in the HAMP gene in a patient affected by a severe form of hereditary hemochromatosis. The variant, occurring in a highly conserved amino acid, disrupts one of the 4 intramolecular disulphide bonds present in hepcidin molecules of all vertebrates, and is presumably able to destabilize the peptide structure. The investigated patient was also found to harbor a heterozygous HFE c.845G>A (p.C282Y) mutation that may have contributed in increasing his iron burdenI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
