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3 results on '"Marie-Pascale Beaumont-Epinette"'

1. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis

Author

Olivier Loréal, Edouard Bardou-Jacquet, Caroline Le Lan, Xavier Causse, Marie-Pascale Beaumont-Epinette, Yves Deugnier, Anne-Marie Jouanolle, Zeineb Ben Ali, Pierre Brissot, Véronique Loustaud-Ratti, Houda Hamdi-Rozé, CHU Pontchaillou [Rennes], Pharmacologie des Immunosuppresseurs et de la Transplantation (PIST), Université de Limoges (UNILIM)-CHU Limoges-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut National de la Santé et de la Recherche Médicale (INSERM), Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges, Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Iron Overload, [SDV.CAN]Life Sciences [q-bio]/Cancer, 03 medical and health sciences, 0302 clinical medicine, medicine, Coding region, Humans, Clinical significance, Hemochromatosis Protein, Gene, Hemochromatosis, Aged, Genetics, business.industry, Homozygote, Genetic Variation, nutritional and metabolic diseases, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Hematology, Sequence Analysis, DNA, Middle Aged, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, 030211 gastroenterology & hepatology, Female, HAMP, business
Abstract

International audience; p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were studied. Sequencing was performed for coding region and intronic flanking sequences of HFE, HAMP, HFE2, TFR2, and SLC40A1. Nine private HFE variants were identified in 13 of 206 unrelated patients. Among those, five have not been previously described: p.Leu270Argfs*4, p.Ala271Valfs*25, p.Tyr52*, p.Lys166Asn, and p.Asp141Tyr. Our results show that rare HFE variants are identified more frequently than variants in the other genes associated with iron overload. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients. Am. J. Hematol. 91:1202–1205, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Published
2016
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2. Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload

Author

Anne-Marie Jouanolle, Edouard Bardou-Jacquet, Pierre Brissot, Yves Deugnier, Olivier Loréal, Jean-Bernard Delobel, Marie-Pascale Beaumont-Epinette, Martine Ropert, Lecoupe-Grainville, Marie, CHU Pontchaillou [Rennes], Université de Rennes (UR), Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), This study was supported by grants from the Programme National Hospitalier de Recherche Clinique 2010, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Male, DNA Mutational Analysis, Gene Expression, Elevated transferrin saturation, Transferrin saturation, Diagnostic evaluation, 0302 clinical medicine, Tranferrin, Iron overload, Metal Metabolism, Inborn Errors, chemistry.chemical_classification, 0303 health sciences, Transferrin, Hematology, Middle Aged, 3. Good health, Pedigree, 030220 oncology & carcinogenesis, Molecular Medicine, Female, HAMP, Hemochromatosis, Adult, medicine.medical_specialty, Heterozygote, Genotype, Iron, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, 03 medical and health sciences, Hepcidins, Internal medicine, medicine, Humans, Hemochromatosis Protein, Molecular Biology, 030304 developmental biology, Aged, business.industry, Histocompatibility Antigens Class I, Membrane Proteins, Cell Biology, medicine.disease, Endocrinology, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Immunology, Mutation, business
Abstract

International audience; As our understanding of iron metabolism improves through the more accurate description of iron metabolism actors, new causes of iron overload are identified. We, here, report 16 cases of hereditary hypotransferrinemia related to 4 previously undescribed TF (transferrin) mutations (p.Val221Gly, p.Arg609Trp, p.Glu370Lys, p.Tyr533X and p.Cys421Arg). We show that, besides increasing serum transferrin saturation without iron overload, hypotransferrinemia, when associated to mutations in HFE or HAMP or to acquired factors, can lead to clinically relevant iron burden. These cases emphasize the usefulness of serum transferrin determination in the diagnostic evaluation of iron overload and the importance for clinicians to be aware of this syndrome.

Published
2015
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3. Non-HFE hemochromatosis: pathophysiological and diagnostic aspects

Author

Olivier Loréal, Pierre Brissot, Marie-Pascale Beaumont-Epinette, Anne-Marie Jouanolle, Edouard Bardou-Jacquet, Zeineb Ben Ali, Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence des surcharges en fer rares d'origine génétique, CHU Pontchaillou [Rennes], Service des maladies du foie, Laboratoire de génétique moléculaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes], Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service des maladies du foie [CHU Rennes], Centre Hospitalier Universitaire [Rennes], Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], and Jonchère, Laurent

Subjects
Biopsy, medicine.disease_cause, Benzoates, 0302 clinical medicine, Phlebotomy, Cation Transport Proteins, Genetics, Metabolic Syndrome, 0303 health sciences, Mutation, biology, medicine.diagnostic_test, Macrophage Activation Syndrome, Gastroenterology, Transferrin, Juvenile hemochromatosis, Magnetic Resonance Imaging, 3. Good health, Liver, 030220 oncology & carcinogenesis, Hemochromatosis, medicine.drug, Iron Overload, Alcohol Drinking, Iron, Transferrin receptor, Iron Chelating Agents, Cataract, 03 medical and health sciences, Hepcidins, Hepcidin, Receptors, Transferrin, medicine, Humans, Genetic Testing, Hemochromatosis Protein, 030304 developmental biology, Hemojuvelin, Genetic testing, Inflammation, Gaucher Disease, Hepatology, business.industry, Deferasirox, Decision Trees, Histocompatibility Antigens Class I, Membrane Proteins, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Triazoles, medicine.disease, Iron Metabolism Disorders, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Diet, biology.protein, business
Abstract

International audience; Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochromatosis. To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease). The diagnosis relies on the comprehension of the involved physiological defect that can now be explored by biological and imaging tools, which allow non-invasive assessment of iron metabolism. A multidisciplinary approach is essential to support the physicians in the diagnosis and management of those rare diseases.

Published
2013
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