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.
Publication types
-
Case Reports
-
Letter
-
Research Support, Non-U.S. Gov't
MeSH terms
-
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
Substances
-
5' Untranslated Regions
-
Antimicrobial Cationic Peptides
-
Codon, Initiator
-
HAMP protein, human
-
Hepcidins
-
RNA, Messenger