Ferroportin-1 mutant

Details Ferroportin-1 mutant Ferroportin-1 mutant

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A61K 48/00 (2006.01) A61P 43/00 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C07K 16/28 (2006.01) C12N 15/63 (2006.01) C12N 15/85 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/566 (2006.01)

Patent

CA 2462140

A mutant, human ferroportin-1 protein and encoding nucleic acid are provided. The mutant ferroportin-1 protein has a deletion of valine 162 compared to wild- type ferroportin-1 protein. The mutant protein and nucleic acid may be useful in detection of a predisposition to iron overload disorders such as haemochromatosis. Furthermore, it is proposed that the valine 162 deletion is a loss-of-function mutation that may underlie iron overload disorders such as haemochromatosis. Therefore, methods of both diagnosis and treatment of haemochromatosis are provided.

L'invention concerne une protéine ferroportine 1 humaine mutante et l'acide nucléique codant. La protéine ferroportine 1 mutante diffère de la protéine ferroportine 1 de type sauvage en ce qu'elle comporte une délétion de valine 162. La protéine mutante et l'acide nucléique peuvent être utiles dans la détection d'une prédisposition à des troubles impliquant une surcharge en fer tels que l'hémochromatose. De plus, la délétion de valine 162 constitue une mutation induisant une perte de fonction susceptible d'être à l'origine de troubles impliquant une surcharge en fer tels que l'hémochromatose. L'invention concerne aussi des méthodes de diagnostic et de traitement de l'hémochromatose.

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