Facilitating Research to Develop Treatments for HFE-associated Hereditary Hemochromatosis

SLU ID 21-008 | HFE knockout mice

Background

Hereditary hemochromatosis (HH) is a common autosomal recessive disease. It manifests in increased iron absorption and progressive iron storage that damages major organs. There is a need for tools that facilitate investigation of the pathogenesis of increased iron in HH and therapeutic strategies for its prevention and cure.

Overview

Researchers at Saint Louis Univeristy have developed mice that have complete loss of function of the hemochromatosis protein HFE due to knockout of the gene. They demonstrate the classic phenotypic iron abnormalities seen in human HFE-associated hereditary hemochromatosis (HH). The mice have since been bred onto an FVB/n background, a strain that strongly manifests the iron phenotype.

Benefits

The potential benefits of this technology include:

• Increasing the ability to investigate the pathogenesis of iron accumulation in hereditary hemochromatosis

• Increasing the ability to develop treatments for hereditary hemochromatosis

Applications

The potential applications of this technology include:

• Developing treatments for hereditary hemochromatosis

• Investigating the pathogenesis of increased iron accumulation

Opportunity

Saint Louis University offers this technology under a non-exclusive license.

References

• Zhou, X. Y., Tomatsu, S., Fleming, R. E., Parkkila, S., Waheed, A., Jiang, J., Fei, Y., Brunt, E. M., Ruddy, D. A., Prass, C. E., Schatzman, R. C., O'Neill, R., Britton, R. S., Bacon, B. R., & Sly, W. S. (1998). HFE gene knockout produces mouse model of hereditary hemochromatosis. Proceedings of the National Academy of Sciences, 95(5), 2492-2497. PMID 9482913.