The C282Y Mutation Causing Hereditary Hemochromatosis Does Not ...

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Abstract

Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele. The second mutation introduces a missense mutation (C282Y) into the Hfe locus, but otherwise leaves the gene intact. This mutation is identical to the disease-causing mutation in patients with hereditary hemochromatosis. Mice carrying each of the two mutations were bred and analyzed. Homozygosity for either mutation results in postnatal iron loading. The effects of the null mutation are more severe than the effects of the C282Y mutation. Mice heterozygous for either mutation accumulate more iron than normal controls. Interestingly, although liver iron stores are greatly increased, splenic iron is decreased. We conclude that the C282Y mutation does not result in a null allele.

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• Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT. Barton JC, et al. Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):147-55. doi: 10.1006/bcmd.1999.0240. Blood Cells Mol Dis. 1999. PMID: 10575540
• Hemochromatosis in Ireland and HFE. Ryan E, O'keane C, Crowe J. Ryan E, et al. Blood Cells Mol Dis. 1998 Dec;24(4):428-32. doi: 10.1006/bcmd.1998.0211. Blood Cells Mol Dis. 1998. PMID: 9851896 Clinical Trial.
• Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis. Bittencourt PL, Palácios SA, Couto CA, Cançado EL, Carrilho FJ, Laudanna AA, Kalil J, Gayotto LC, Goldberg AC. Bittencourt PL, et al. Braz J Med Biol Res. 2002 Mar;35(3):329-35. doi: 10.1590/s0100-879x2002000300007. Braz J Med Biol Res. 2002. PMID: 11887210
• [Genetic hemochromatosis and the HFE gene: from molecular genetics to clinical diagnosis]. Höhler T, Gerken G. Höhler T, et al. Z Gastroenterol. 2000 Jun;38(6):509-15. doi: 10.1055/s-2000-14891. Z Gastroenterol. 2000. PMID: 10923364 Review. German.
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• Lack of Hfe and TfR2 in Macrophages Impairs Iron Metabolism in the Spleen and the Bone Marrow. Comità S, Falco P, Mezzanotte M, Vujić Spasić M, Roetto A. Comità S, et al. Int J Mol Sci. 2024 Aug 23;25(17):9142. doi: 10.3390/ijms25179142. Int J Mol Sci. 2024. PMID: 39273097 Free PMC article.
• The oral ferroportin inhibitor vamifeport prevents liver iron overload in a mouse model of hemochromatosis. Nyffenegger N, Flace A, Varol A, Altermatt P, Doucerain C, Sundstrom H, Dürrenberger F, Manolova V. Nyffenegger N, et al. Hemasphere. 2024 Sep 12;8(9):e147. doi: 10.1002/hem3.147. eCollection 2024 Sep. Hemasphere. 2024. PMID: 39267817 Free PMC article.
• Liraglutide Impacts Iron Homeostasis in a Murine Model of Hereditary Hemochromatosis. Bozadjieva-Kramer N, Shin JH, Blok NB, Jain C, Das NK, Polex-Wolf J, Knudsen LB, Shah YM, Seeley RJ. Bozadjieva-Kramer N, et al. Endocrinology. 2024 Jul 26;165(9):bqae090. doi: 10.1210/endocr/bqae090. Endocrinology. 2024. PMID: 39045670
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• Hereditary hemochromatosis with homozygous C282Y HFE mutation: possible clinical model to assess effects of elevated reactive oxygen species on the development of cardiovascular disease. Shizukuda Y, Rosing DR. Shizukuda Y, et al. Mol Cell Biochem. 2024 Mar;479(3):617-627. doi: 10.1007/s11010-023-04726-y. Epub 2023 May 3. Mol Cell Biochem. 2024. PMID: 37133674 Review.

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