en
Scientific article
Case report
Open access
English

Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis

Published inHaematologica, vol. 92, no. 1, p. 127-128
Publication date2007-01
Abstract

We describe a point mutation creating an additional ATG codon in the 5' untranslated region (UTR) of the HAMP gene, in a patient with juvenile hemochromatosis. By transient in vitro transfection studies, we provide evidence that the additional ATG is functional and prevents normal hepcidin production by inducing an aberrant translation initiation of the pre-hepcidin mRNA.

eng
Keywords
  • 5' Untranslated Regions
  • Antimicrobial Cationic Peptides / blood
  • Antimicrobial Cationic Peptides / deficiency
  • Antimicrobial Cationic Peptides / genetics
  • Cell Line
  • Codon, Initiator
  • Hemochromatosis / blood
  • Hepcidins
  • Humans
  • Models, Biological
  • Mutation
  • Point Mutation
  • Protein Biosynthesis
  • RNA, Messenger / metabolism
  • Transfection
Citation (ISO format)
RIDEAU, Alexandra et al. Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. In: Haematologica, 2007, vol. 92, n° 1, p. 127–128. doi: 10.3324/haematol.10545
Main files (1)
Article (Published version)
Identifiers
ISSN of the journal0390-6078
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15downloads

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