A novel mutation in ferroportin implicated in iron overload

Wallace, Daniel F., Dixon, Jeannette L., Ramm, Grant A., Anderson, Gregory J., Powell, Lawrie W. and Subramaniam, V. Nathan (2007) A novel mutation in ferroportin implicated in iron overload. Journal of Hepatology, 46 5: 921-926. doi:10.1016/j.jhep.2007.01.033

Author Wallace, Daniel F.
Dixon, Jeannette L.
Ramm, Grant A.
Anderson, Gregory J.
Powell, Lawrie W.
Subramaniam, V. Nathan
Title A novel mutation in ferroportin implicated in iron overload
Journal name Journal of Hepatology   Check publisher's open access policy
ISSN 0168-8278
Publication date 2007-05
Sub-type Article (original research)
DOI 10.1016/j.jhep.2007.01.033
Volume 46
Issue 5
Start page 921
End page 926
Total pages 6
Place of publication Amsterdam, Netherlands
Publisher Elsevier BV
Language eng
Formatted abstract
Background/Aims: Hereditary iron overload is associated with mutations in a number of genes involved in the regulation of iron metabolism. In this study we examined the molecular basis of iron overload in an individual from New Zealand and characterised the molecular and cellular defect.
Methods: We analysed the ferroportin gene and a control population was screened using allele-specific PCR and denaturation analysis. Molecular characterisation was performed by immunofluorescence microscopy analysis of transfected cells. We analysed the ferritin levels of cells expressing wild-type and mutant ferroportin to define the nature of the molecular defect on iron transport.
Results: We identified a novel nucleotide substitution (c. 1014T > G) in the ferroportin gene leading to the S338R mutation. This mutation is not a common polymorphism. Cellular analysis of the mutant protein indicates that this amino acid change does not affect the localisation of the protein or its ability to transport iron.
Conclusions: The S338R mutation results in a mutated ferroportin associated with iron overload and is predicted insensitive to regulation by the iron regulatory hormone hepcidin.
Keyword Iron overload
Autosomal dominant
Mutation detection
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 14 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 25 Nov 2010, 10:31:52 EST