M.-L. Island

Université Bretagne Loire

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Olivier Loréal

Inserm

Pierre Brissot

Académie Nationale de Médecine

Anne Marie Jouanolle

Hôpital Pontchaillou

Martine Ropert

Inserm

Yves Deugnier

Inserm

Claude Bendavid

Hôpital Pontchaillou

Patricia Leroyer

Inserm

Marianne Latournerie

Centre Hospitalier Universitaire Dijon Bourgogne

T. Cavey

Centre Hospitalier Universitaire de Rennes

Edouard Bardou‐Jacquet

Centre Hospitalier Universitaire de Rennes

Cooperative Institutions

Centre Hospitalier Universitaire de Rennes

Université de Rennes

Inserm

Hôpital Pontchaillou

Foie, Métabolisme, Cancer

Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement

Nutrition, métabolismes et cancer

Centre National de la Recherche Scientifique

Laboratoire de Génétique Cellulaire

Institut de génétique et de développement de Rennes

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Surcharges héréditaires en fer

Pathologie Biologie (2009)

Pierre Brissot Edouard Bardou‐Jacquet Marianne Latournerie Martine Ropert M.-L. Island

10.1016/j.patbio.2009.10.011

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Citations (4)

Iron excess upregulates SPNS2 mRNA levels but reduces sphingosine-1-phosphate export in human osteoblastic MG-63 cells

Osteoporosis International (2018)

Lucas Peltier Claude Bendavid T. Cavey M.-L. Island Mathilde Doyard

10.1007/s00198-018-4531-8

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Citations (8)

HAMP promoter mutation nc.-153 C>T in 785 HEIRS Study participants: author reply

Haematologica (2009)

Olivier Loréal Anne Marie Jouanolle M.-L. Island Anne G. Mosser Yves Deugnier

We thank Barton and collaborators who gave their attention to our recent publication in Haematologica[1][1] on the –nc.153 C>T mutation found at heterozygous state in the hepcidin promoter of a patient homozygous for the C282Y mutation in HFE with an extremely severe form of genetic

HAMP

10.3324/haematol.2009.013508

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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Haematologica (2009)

M.-L. Island A.-M. Jouanolle Annick Mosser Yves Deugnier Victor A. David

Low levels of hepcidin are responsible for the development of iron overload in p.Cys282Tyr HFE related hemochromatosis. Every genetic factor lowering the hepcidin gene expression could contribute to a more severe phenotype in HFE hemochromatosis. Based on this hypothesis, we identified a heterozygous nc.-153 C>T mutation in the hepcidin gene promoter sequence in a patient homozygous for the p.Cys282Tyr HFE mutation who presented massive iron overload, resisting to well conducted iron depletive treatment. Our results demonstrate that the nc.-153 C>T mutation, located within a BMP-RE (Bone Morphogenetic Protein-Responsive Element): i) decreases the transcriptional activity of the hepcidin promoter, ii) alters its IL-6 (Interleukin-6) total responsiveness, and iii) prevents the binding of the SMAD protein complex (1/5/8 and 4) to the BPM-RE. In conclusion, our results suggest that a mutation in the BMP-RE of hepcidin promoter may impact on human iron metabolism.

Hereditary hemochromatosis

10.3324/haematol.2008.001784

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Citations (67)