The Pathogenesis of Haemochromatosis in the HFE Knockout Mouse Model

Funded Activity Summary

Hereditary haemochromatosis is a very common genetic disease that affects approximately 1 in 200 Australians. It alters the way the body uses iron. It causes an increase in absorption of dietary iron and increased deposition of iron in major organs of the body such as the liver, heart and pancreas. This iron is harmful to tissues in the body and may lead to the development of liver cirrhosis, heart disease, diabetes and malignancy. The gene that is defective in hereditary haemochromatosis patients has been identified and called HFE however, the function of HFE is not known. Recently, an excellent laboratory model of this disease has been developed. We aim to use this model to show for the first time how HFE controls the amount of iron the body absorbs and how much iron is delivered to tissues such as the liver. We also aim to identify how these processes are impaired in hereditary haemochromatosis patients. From this study, we will gain a better understanding of the role of HFE in iron metabolism of normal and hereditary haemochromatosis patients and this will provide opportunities for the development of new therapies for the prevention or treatment of iron overload.

Funded Activity Details

Start Date: 01-01-2000

End Date: 01-01-2002

Funding Scheme: NHMRC Project Grants

Funding Amount: $244,616.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

ANZSRC Socio-Economic Objective (SEO)

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Other Keywords

Haemochromatosis | Hepatocytes and Kupffer Cells | Intestinal Absorption | Iron Metabolism | Iron Overload | Liver Disease

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