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1. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Author

Prasad, Megana K., Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Serena, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Béal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, Alloussi, Mustapha El, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, De la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, Bloch-Zupan, Agnès, Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Evolution Paris Seine, Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC), Centre de génétique et de physiologie moléculaire et cellulaire (CGPhiMC), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Médicale Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'anatomo-pathologie [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut de recherches interdisciplinaires sur les sciences et la technologie (IRIST), Université de Strasbourg (UNISTRA), Université Nice Sophia Antipolis - Faculté de Chirurgie Dentaire (UNS UFR Odontologie), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA), Service d’Odontologie Conservatrice et Pédiatrique [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre de compétences Malformations orales et dentaires rares [CHU Nantes], Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immuno-Rhumatologie Moléculaire, Evolution et développement du squelette (EDS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Systématique, adaptation, évolution (SAE), Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC), Institute of Human Genetics, Universität Heidelberg [Heidelberg], Ecologie et Ecophysiologie Forestières [devient SILVA en 2018] (EEF), Institut National de la Recherche Agronomique (INRA)-Université de Lorraine (UL), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Service de Génétique clinique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Génétique Médicale, Hôpital Civil, Strasbourg, Centre Hospitalier Emile Muller [Mulhouse] (CH E.Muller Mulhouse), Groupe Hospitalier de Territoire Haute Alsace (GHTHA), Centre de Recherche des Cordeliers (CRC), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Medical Genetics, Hôpitaux Universitaires de Strasbourg, Chirurgie orthopédique et pédiatrique [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpitaux universitaires, Département Odontologie Pédiatrique, Centre de Référence National pour les maladies génétiques à expression odontologique, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Les Hôpitaux Universitaires de Strasbourg (HUS), Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche Biomatériaux Innovants et Interfaces (URB2i (URP_4462)), Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Heidelberg University, Université de Lyon, Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Université de Toulouse (UT), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Lille, Centre hospitalier universitaire de Nantes (CHU Nantes), Nantes Université (Nantes Univ), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Nice Sophia-Antipolis (UNSA), Nouvel Hôpital Civil de Strasbourg, Les Hôptaux universitaires de Strasbourg (HUS), CHU Strasbourg, Université Mohammed V de Rabat [Agdal] (UM5), CHU Lyon, Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Faculté de chirurgie dentaire - Strasbourg, Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Université Côte d'Azur (UCA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA), Evolution Paris-Seine, Muséum national d'Histoire naturelle (MNHN)-Institut de Recherche pour le Développement (IRD)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Université Sorbonne Paris Cité (USPC)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA)-Muséum national d'Histoire naturelle (MNHN)-Institut de Recherche pour le Développement (IRD)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Université Sorbonne Paris Cité (USPC)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles (UA), Service de Consultations et de Traitements Dentaires [HCL, Lyon], Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et de Biologie Moléculaire et Cellulaire ( IGBMC ), Université de Strasbourg ( UNISTRA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), DNA Microarrays and Sequencing Platform, Université des Antilles et de la Guyane ( UAG ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Centre National de la Recherche Scientifique ( CNRS ), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), Service d'Odontologie [CHRU Nancy], Faculté de Chirurgie Dentaire, Human Genetics Institute, Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -CHU Pontchaillou [Rennes]-Hôpital Sud, CHU Pontchaillou [Rennes], Hôpital Bretonneau-CHRU Tours, Service de génétique médicale, Hôpital l'Archet, Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant [CHU - HCL] ( HFME ), Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Service de Génétique, Hôpital de Hautepierre [Strasbourg], Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de cytogénétique, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Anthropologie bio-culturelle, Droit, Ethique et Santé ( ADES ), Aix Marseille Université ( AMU ) -EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique ( CNRS ), Faculté dentaire, Université de Strasbourg, Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale ( MAFACE ), Laboratoire de Génétique Médicale, Université Louis Pasteur - Strasbourg I-Hôpital de Hautepierre [Strasbourg]-AVENIR-Inserm, Faculté de Chirurgie Dentaire de Strasbourg, Reference Centre for Oro-dental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-Dentaires-Hôpitaux Universitaires de Strasbourg (HUS), Service de Génétique Médicale [CHRU Nancy], COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Faculté d’Odontologie, Université de Lyon-Université de Lyon, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France, Université Paris Cité (UPC)-Université Sorbonne Paris Nord, CHU Toulouse [Toulouse], University of Mohammed V, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPC), COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015 - 2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université des Antilles et de la Guyane (UAG)-Université Pierre et Marie Curie - Paris 6 (UPMC), INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France-Hôpital Rothschild [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Amelogenesis Imperfecta, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Aucun, Chromosome Disorders, Genetic screening/counselling, Autoantigens, methods, Cohort Studies, Methods, Genetics, Humans, genetics, Genome-wide, Molecular genetics, ComputingMilieux_MISCELLANEOUS, [ SDV ] Life Sciences [q-bio], Tooth Abnormalities, Chromosomes, Human, Pair 11, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Non-Fibrillar Collagens, Coloboma, Dentin Dysplasia, Mutation, France, Chromosome Deletion, Diagnostics tests
Abstract

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824. journal article research support, non-u.s. gov't 2016 Feb 2015 10 26 imported

Published
2016

2. MSX2 in ameloblast cell fate and activity

Author

Sylvie eBabajko, Muriel ede La Dure-Molla, Katia eJedeon, Ariane eBerdal, Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-UPMC, Gestionnaire, Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France, Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale ( MAFACE ), INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France-Hôpital Rothschild [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Genetically modified mouse, Physiology, Review Article, Biology, Cell fate determination, lcsh:Physiology, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Physiology (medical), transcription factors, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Ameloblasts, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Transcription factor, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, 030304 developmental biology, teeth, Regulation of gene expression, 0303 health sciences, Enamel paint, lcsh:QP1-981, Effector, enamel, Amelogenesis, Anatomy, differentiation, ameloblast, Cell biology, stomatognathic diseases, visual_art, visual_art.visual_art_medium, Ameloblast, 030217 neurology & neurosurgery, MSX2
Abstract

International audience; While many effectors have been identified in enamel matrix and cells via genetic studies, physiological networks underlying their expression levels and thus the natural spectrum of enamel thickness and degree of mineralization are now just emerging. Several transcription factors are candidates for enamel gene expression regulation and thus the control of enamel quality. Some of these factors, such as MSX2, are mainly confined to the dental epithelium. MSX2 homeoprotein controls several stages of the ameloblast life cycle. This chapter introduces MSX2 and its target genes in the ameloblast and provides an overview of knowledge regarding its effects in vivo in transgenic mouse models. Currently available in vitro data on the role of MSX2 as a transcription factor and its links to other players in ameloblast gene regulation are considered. MSX2 modulations are relevant to the interplay between developmental, hormonal and environmental pathways and in vivo investigations, notably in the rodent incisor, have provided insight into dental physiology. Indeed, in vivo models are particularly promising for investigating enamel formation and MSX2 function in ameloblast cell fate. MSX2 may be central to the temporal-spatial restriction of enamel protein production by the dental epithelium and thus regulation of enamel quality (thickness and mineralization level) under physiological and pathological conditions. Studies on MSX2 show that amelogenesis is not an isolated process but is part of the more general physiology of coordinated dental-bone complex growth.

Published
2015
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3. Tracking Endogenous Amelogenin and Ameloblastin In Vivo

Author

Dominique Hotton, Ashok B. Kulkarni, Audrey Asselin, Carolyn W. Gibson, Ariane Berdal, Muriel De La Dure-Molla, Juliane Isaac, Stéphane Petit, Jaime Jacques, Steven J. Brookes, HAL UPMC, Gestionnaire, Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 - UFR Odontologie (UPD7 Odontologie), Université Paris Diderot - Paris 7 (UPD7), Universidad de Talca, Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France, National Institutes of Health [Bethesda] (NIH), University of Pennsylvania, University of Leeds, Biologie Moléculaire du Développement, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Diderot - Paris 7 - UFR Odontologie ( UPD7 UFR Odontologie ), Université Paris Diderot - Paris 7 ( UPD7 ), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale ( MAFACE ), National Institutes of Health, Bethesda, University of Pennsylvania [Philadelphia], Institut Pasteur [Paris]-Centre National de la Recherche Scientifique ( CNRS ), Université Paris Diderot - Paris 7 (UPD7)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]

Subjects
Male, Pathology, Physiology, lcsh:Medicine, Gene Expression, Muscle Proteins, Mandible, Matrix (biology), Biochemistry, Extracellular matrix, Diffusion, Mesoderm, Mice, 0302 clinical medicine, Testis, Medicine and Health Sciences, AMBN, lcsh:Science, AMELX, Musculoskeletal System, Mice, Knockout, 0303 health sciences, Extracellular Matrix Proteins, Multidisciplinary, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Immunochemistry, Gene Expression Regulation, Developmental, Animal Models, Cell biology, Connective Tissue, Organ Specificity, Female, Anatomy, Research Article, medicine.medical_specialty, Histology, Bone and Mineral Metabolism, Immunology, Oral Medicine, Mouse Models, Biology, Research and Analysis Methods, 03 medical and health sciences, Paracrine signalling, Model Organisms, Dental Enamel Proteins, Tongue, stomatognathic system, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, medicine, Genetics, Animals, RNA, Messenger, Bone, Eye Proteins, Dental alveolus, 030304 developmental biology, Amelogenin, lcsh:R, Mesenchymal stem cell, Ovary, Biology and Life Sciences, Proteins, Epithelial Cells, 030206 dentistry, Viscera, stomatognathic diseases, Biological Tissue, Metabolism, Solubility, Dentistry, lcsh:Q, Physiological Processes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; Research on enamel matrix proteins (EMPs) is centered on understanding their role in enamel biomineralization and their bioactivity for tissue engineering. While therapeutic application of EMPs has been widely documented, their expression and biological function in non-enamel tissues is unclear. Our first aim was to screen for amelogenin (AMELX) and ameloblastin (AMBN) gene expression in mandibular bones and soft tissues isolated from adult mice (15 weeks old). Using RT-PCR, we showed mRNA expression of AMELX and AMBN in mandibular alveolar and basal bones and, at low levels, in several soft tissues; eyes and ovaries were RNA-positive for AMELX and eyes, tongues and testicles for AMBN. Moreover, in mandibular tissues AMELX and AMBN mRNA levels varied according to two parameters: 1) ontogenic stage (decreasing with age), and 2) tissue-type (e.g. higher level in dental epithelial cells and alveolar bone when compared to basal bone and dental mesenchymal cells in 1 week old mice). In situ hybridization and immunohistodetection were performed in mandibular tissues using AMELX KO mice as controls. We identified AMELX-producing (RNA-positive) cells lining the adjacent alveolar bone and AMBN and AMELX proteins in the microenvironment surrounding EMPs-producing cells. Western blotting of proteins extracted by non-dissociative means revealed that AMELX and AMBN are not exclusive to mineralized matrix; they are present to some degree in a solubilized state in mandibular bone and presumably have some capacity to diffuse. Our data support the notion that AMELX and AMBN may function as growth factor-like molecules solubilized in the aqueous microenvironment. In jaws, they might play some role in bone physiology through autocrine/paracrine pathways, particularly during development and stress-induced remodeling.

Published
2014

4. Virtual versus traditional classroom on facial traumatology learning: Evaluation of medical student's knowledge acquisition and satisfaction

Author

Anne Morice, Natacha Kadlub, Eve Jablon, Roman Hossein Khonsari, Arnaud Picard, Cloe Delevaque, Service de Chirurgie maxillo-faciale et stomatologie, Centre hospitalier universitaire de Nantes (CHU Nantes), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France-Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), AGroécologie, Innovations, teRritoires (AGIR), Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
medicine.medical_specialty, Students, Medical, [SDV]Life Sciences [q-bio], Traditional classroom, Traumatology, Personal Satisfaction, 03 medical and health sciences, 0302 clinical medicine, ComputingMilieux_COMPUTERSANDEDUCATION, Medicine, Humans, 030223 otorhinolaryngology, Virtual classroom, High rate, Medical education, Class (computer programming), business.industry, 4. Education, 030206 dentistry, Knowledge acquisition, Test (assessment), Otorhinolaryngology, Absenteeism, Surgery, Oral Surgery, business
Abstract

Introduction The high rate of absenteeism in the courses led us to offer virtual classrooms to better meet the expectations of students who may have geographical constraints. The objectives of this study were: to compare student's knowledge acquisition and satisfaction between virtual and traditional face-to-face classroom and to determine potential factors that may correlate with the level of knowledge acquisition following both type of courses. Methods Our study included fifth-year medical students attending the course of facial traumatology, who voluntarily participated either in virtual or traditional classroom. Students’ knowledge acquisition was evaluated through a multiple-choice questions test. A second questionnaire aimed to determine factors potentially correlated with students’ knowledge acquisition and to evaluate their satisfaction. Results of questionnaire no 1 were compared between virtual and traditional classroom. Additionally, a correlation study was performed between the results of questionnaire no 1 and the factors listed in questionnaire no 2. Results One hundred thirty-six students participated to the course (virtual: 64, traditional: 72). Knowledge acquisition and concentration level didn’t significantly differ between the two groups. Knowledge acquisition was positively correlated with the intensity of study of the course topic prior to the class only in traditional classroom (P Conclusion Considering there is no noticeable difference in knowledge acquisition between virtual and traditional classroom, we will continue virtual classroom in parallel with traditional classroom and extend it to the other courses of our field.

Published
2020

5. A swollen cheek

Author

Joël Ferri, B Catteau, Matthias Schlund, Sandrine Touzet-Roumazeille, Roman Hossein Khonsari, C Leverd, Médicaments et biomatériaux à libération contrôlée: mécanismes et optimisation - Advanced Drug Delivery Systems - U 1008 (MBLC - ADDS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Lille, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France, CCSD, Accord Elsevier, CHU Rothschild [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
0303 health sciences, business.industry, [SDV]Life Sciences [q-bio], Swollen cheek, Anatomy, [SDV] Life Sciences [q-bio], 03 medical and health sciences, Cheek, 0302 clinical medicine, Otorhinolaryngology, 030220 oncology & carcinogenesis, Humans, Medicine, Surgery, Oral Surgery, Mouth Diseases, business, 030304 developmental biology
Abstract

International audience; No abstract available

Published
2020

6. Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

Author

Lisa Friedlander, Rémy Choquet, Eva Galliani, Myriam de Chalendar, Claude Messiaen, Amélie Ruel, Marie-Paule Vazquez, Ariane Berdal, Corinne Alberti, Muriel De La Dure Molla, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France-Hôpital Rothschild [AP-HP], Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Sorbonne Paris Cité (USPC), Université Paris Descartes - Paris 5 (UPD5), Service de chirurgie plastique et maxillofaciale [CHU Necker], Centre de Recherche des Cordeliers (CRC), Université Pierre et Marie Curie - Paris 6 (UPMC)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), One funding/research grant was received to support this study from University Paris-Diderot (Action Structurante Dental faculty Garancière)., CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-École Pratique des Hautes Études (EPHE), BMC, BMC, Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables ( Inserm U1123 - ECEVE ), AP-HP Hôpital universitaire Robert-Debré [Paris]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Diderot - Paris 7 ( UPD7 ), Centre de référence des malformations rares de la face et de la cavité buccale [AP-HP Hôpital Rothschild], AP-HP Hôpital Rothschild, Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] ( MaMEA Necker ), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Université Sorbonne Paris Cité ( USPC ), Université Paris Descartes - Paris 5 ( UPD5 ), Centre de Recherche des Cordeliers ( CRC ), Université Paris Diderot - Paris 7 ( UPD7 ) -École pratique des hautes études ( EPHE ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies ( Equipe Inserm U1163 ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), and Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 )

Subjects
Male, Registry, [ SDV ] Life Sciences [q-bio], Epidemiology, Research, [SDV]Life Sciences [q-bio], lcsh:R, lcsh:Medicine, Poisons, Rare diseases, [SDV] Life Sciences [q-bio], Oral cleft, Risk Factors, Prevalence, Humans, Female, Orofacial diseases, France, Prospective Studies
Abstract

Background In the last ten years, national rare disease networks have been established in France, including national centres of expertise and regional ones, with storage of patient data in a bioinformatics tool. The aim was to contribute to the development and evaluation of health strategies to improve the management of patients with rare diseases. The objective of this study has been to provide the first national-level data concerning rare diseases of the head, neck and teeth and to assess the balance between demand and supply of care in France. Methods Centres of expertise for rare diseases record a minimum data set on their clinical cases, using a list of rare Head, Neck and Teeth diseases established in 2006. The present analysis focuses on 2008 to 2015 data based on the Orphanet nomenclature. Each rare disease RD “case” was defined by status “affected” and by the degree of diagnostic certainty, encoded as: confirmed, probable or non-classifiable. Analysed parameters, presented with their 95% confidence intervals using a Poisson model, were the following: time and age at diagnosis, proportions of crude and standardized RD prevalence by age, gender and geographical site. The criteria studied were the proportions of patients in Paris Region and the “included cases geography”, in which these proportions were projected onto the other French Regions, adjusting for local populations. Results In Paris Region, estimated prevalence of these diseases was 5.58 per 10,000 inhabitants (95% CI 4.3-7.1). At December 31st 2015, 11,342 patients were referenced in total in France, of whom 7294 were in Paris Region. More than 580 individual clinical entities (ORPHA code) were identified with their respective frequencies. Most abnormalities were diagnosed antenatally. Nearly 80% of patients recorded come to Paris hospitals to obtain either diagnosis, care or follow up. We observed that the rarer the disease, the more patients were referred to Paris hospitals. Conclusions A health network covering a range of aspects of the rare diseases problematic from diagnostics to research has been developed in France. Despite this, there is still a noticeable imbalance between health care supply and demand in this area. Electronic supplementary material The online version of this article (doi:10.1186/s13023-017-0650-0) contains supplementary material, which is available to authorized users.

Published
2017

7. Estrogen and bisphenol A affect male rat enamel formation and promote ameloblast proliferation

Author

Katia Jedeon, Sophia Loiodice, Marie-Chantal Canivenc Lavier, Clémence Marciano, Sylvie Babajko, Ariane Berdal, Alexia Vinel, Université Paris Descartes - Paris 5 (UPD5), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7), Université Pierre et Marie Curie - Paris 6 (UPMC), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées, Centre des Sciences du Goût et de l'Alimentation (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), UFR d’Odontologie, Centre de Référence des Maladies Rares de la Face et de la Cavité Buccale (MAFACE), Hôpital Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-INSERM U 132, Hôpital Necker - Enfants Malades, Paris, France, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Toulouse (UT), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), CHU Rothschild [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
Male, RECEPTOR-ALPHA, CHILDREN, Endocrine Disruptors, 0302 clinical medicine, Endocrinology, Amelogenesis, BINDING, Ameloblasts, 0303 health sciences, Enamel paint, Chemistry, MAMMARY CARCINOGENESIS, LOCALIZATION, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, visual_art, visual_art.visual_art_medium, Ameloblast, ENDOCRINE DISRUPTOR, hormones, hormone substitutes, and hormone antagonists, medicine.medical_specialty, endocrine system, medicine.drug_class, INCISOR, 03 medical and health sciences, Phenols, stomatognathic system, In vivo, Internal medicine, medicine, Animals, Estrogen Receptor beta, EXPOSURE, Benzhydryl Compounds, Rats, Wistar, Dental Enamel, 030304 developmental biology, Cell Proliferation, urogenital system, Estrogen Receptor alpha, Estrogens, 030206 dentistry, IN-VITRO, GAMMA, Molar Incisor Hypomineralization, Rats, stomatognathic diseases, Enamel mineralization, Estrogen, Hormone
Abstract

International audience; Bisphenol A (BPA) is a widespread endocrine disrupting chemical (EDC) strongly suspected to have adverse health effects. Numerous tissues and cells are affected by BPA, and we showed recently that BPA targets include ameloblasts and enamel. We therefore investigated the effects of BPA on ameloblasts and the possible involvement of the estrogen signaling pathway. Rats were exposed daily to low-dose BPA, and developed enamel hypomineralization similar to human molar incisor hypomineralization (MIH). BPA increased ameloblast proliferation in vivo and in vitro. The proliferation of the rat dental epithelial cell line HAT-7 was also increased by estrogen (E2). Ameloblasts express ER alpha but not ER beta both in vivo and in vitro. The ER antagonist ICI 182,780 was used to inactivate ER alpha and abolished the effects of E2 on cell proliferation and transcription, but only partially reduced the effects of BPA. In conclusion, we show, for the first time, that: 1) BPA has ER-dependent and ER-independent effects on ameloblast proliferation and gene transcription; 2) the estrogen signaling pathway is involved in tooth development and the enamel mineralization process; and 3) BPA impacts preferentially amelogenesis in male rats. These results are consistent with the steroid hormones having effect on ameloblasts, raising the issues of the hormonal influence on amelogenesis and possible differences in enamel quality between sexes.

Published
2014

9. Expression of Steroid Receptors in Ameloblasts during Amelogenesis in Rat Incisors.

Author

Houari S, Loiodice S, Jedeon K, Berdal A, and Babajko S

Abstract

Endocrine disrupting chemicals (EDCs) play a part in the modern burst of diseases and interfere with the steroid hormone axis. Bisphenol A (BPA), one of the most active and widely used EDCs, affects ameloblast functions, leading to an enamel hypomineralization pattern similar to that of Molar Incisor Hypomineralization (MIH). In order to explore the molecular pathways stimulated by BPA during amelogenesis, we thoroughly investigated the receptors known to directly or indirectly mediate the effects of BPA. The expression patterns of high affinity BPA receptors (ERRγ, GPR30), of ketosteroid receptors (ERs, AR, PGR, GR, MR), of the retinoid receptor RXRα, and PPARγ were established using RT-qPCR analysis of RNAs extracted from microdissected enamel organ of adult rats. Their expression was dependent on the stage of ameloblast differentiation, except that of ERβ and PPARγ which remained undetectable. An additional large scale microarray analysis revealed three main groups of receptors according to their level of expression in maturation-stage ameloblasts. The expression level of RXRα was the highest, similar to the vitamin D receptor (VDR), whereas the others were 13 to 612-fold lower, with AR and GR being intermediate. Immunofluorescent analysis of VDR, ERα and AR confirmed their presence mainly in maturation- stage ameloblasts. These data provide further evidence that ameloblasts express a specific combination of hormonal receptors depending on their developmental stage. This study represents the first step toward understanding dental endocrinology as well as some of the effects of EDCs on the pathophysiology of amelogenesis.

Published
2016
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10. Chronic Exposure to Bisphenol A Exacerbates Dental Fluorosis in Growing Rats.

Author

Jedeon K, Houari S, Loiodice S, Thuy TT, Le Normand M, Berdal A, and Babajko S

Subjects
Animals, Child, Dental Enamel metabolism, Epithelium drug effects, Female, Fluorosis, Dental genetics, Gene Expression Regulation drug effects, Humans, Male, Oligonucleotide Array Sequence Analysis, Peptide Hydrolases metabolism, Rats, Wistar, Sodium Fluoride pharmacology, Young Adult, Benzhydryl Compounds adverse effects, Disease Progression, Fluorosis, Dental pathology, Phenols adverse effects
Abstract

Enamel defects resulting from environmental conditions and way of life are public health concerns because of their high prevalence. Because their etiology is unclear, the aim of this study was to analyze the various forms of enamel hypomineralization, and to characterize the genes involved in this process to determine the mechanisms involved in disruptions of amelogenesis. We used bisphenol A (BPA) and fluoride as models; both are commonly encountered in human populations and utilized in dentistry. Wistar rats were chronically exposed to 5 μg/kg/day BPA from day 1 of gestation to day 65 after birth (P65) and 5 mM fluoride from P21 to P65. Resulting enamel defects were comparable to the human enamel pathologies molar incisor hypomineralization (MIH) and dental fluorosis (DF) respectively, and were more severe in rats exposed to both agents than to each agent alone. Large-scale transcriptomic analysis of dental epithelium showed a small group of genes the expression of which was affected by exposure to BPA or NaF. Among the most modulated, many are directly involved in amelogenesis (Amelx, Enam, Klk4, Mmp12, Slc26a4, and Slc5a8), and can be regrouped as forming the "hypomineralization enameloma." Each of these gene expression perturbations may contribute to enamel defects. Exposure to BPA weakens enamel, making it more prone to generate frequent mineralization defects MIH and DF. Our study identifies hypomineralization genes that may enable the use of dental enamel as an early marker of exposure to environmental toxicants because of its unique ability to retrospectively record ameloblast pathophysiology. © 2016 American Society for Bone and Mineral Research., (© 2016 American Society for Bone and Mineral Research.)

Published
2016
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11. MSX2 in ameloblast cell fate and activity.

Author

Babajko S, de La Dure-Molla M, Jedeon K, and Berdal A

Abstract

While many effectors have been identified in enamel matrix and cells via genetic studies, physiological networks underlying their expression levels and thus the natural spectrum of enamel thickness and degree of mineralization are now just emerging. Several transcription factors are candidates for enamel gene expression regulation and thus the control of enamel quality. Some of these factors, such as MSX2, are mainly confined to the dental epithelium. MSX2 homeoprotein controls several stages of the ameloblast life cycle. This chapter introduces MSX2 and its target genes in the ameloblast and provides an overview of knowledge regarding its effects in vivo in transgenic mouse models. Currently available in vitro data on the role of MSX2 as a transcription factor and its links to other players in ameloblast gene regulation are considered. MSX2 modulations are relevant to the interplay between developmental, hormonal and environmental pathways and in vivo investigations, notably in the rodent incisor, have provided insight into dental physiology. Indeed, in vivo models are particularly promising for investigating enamel formation and MSX2 function in ameloblast cell fate. MSX2 may be central to the temporal-spatial restriction of enamel protein production by the dental epithelium and thus regulation of enamel quality (thickness and mineralization level) under physiological and pathological conditions. Studies on MSX2 show that amelogenesis is not an isolated process but is part of the more general physiology of coordinated dental-bone complex growth.

Published
2015
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12. Estrogen and bisphenol A affect male rat enamel formation and promote ameloblast proliferation.

Author

Jedeon K, Loiodice S, Marciano C, Vinel A, Canivenc Lavier MC, Berdal A, and Babajko S

Subjects
Ameloblasts cytology, Ameloblasts metabolism, Amelogenesis drug effects, Animals, Dental Enamel cytology, Dental Enamel metabolism, Estrogen Receptor alpha genetics, Estrogen Receptor alpha metabolism, Estrogen Receptor beta genetics, Estrogen Receptor beta metabolism, Male, Rats, Rats, Wistar, Ameloblasts drug effects, Benzhydryl Compounds pharmacology, Cell Proliferation drug effects, Dental Enamel drug effects, Endocrine Disruptors pharmacology, Estrogens pharmacology, Phenols pharmacology
Abstract

Bisphenol A (BPA) is a widespread endocrine disrupting chemical (EDC) strongly suspected to have adverse health effects. Numerous tissues and cells are affected by BPA, and we showed recently that BPA targets include ameloblasts and enamel. We therefore investigated the effects of BPA on ameloblasts and the possible involvement of the estrogen signaling pathway. Rats were exposed daily to low-dose BPA, and developed enamel hypomineralization similar to human molar incisor hypomineralization (MIH). BPA increased ameloblast proliferation in vivo and in vitro. The proliferation of the rat dental epithelial cell line HAT-7 was also increased by estrogen (E2). Ameloblasts express ERα but not ERβ both in vivo and in vitro. The ER antagonist ICI 182,780 was used to inactivate ERα and abolished the effects of E2 on cell proliferation and transcription, but only partially reduced the effects of BPA. In conclusion, we show, for the first time, that: 1) BPA has ER-dependent and ER-independent effects on ameloblast proliferation and gene transcription; 2) the estrogen signaling pathway is involved in tooth development and the enamel mineralization process; and 3) BPA impacts preferentially amelogenesis in male rats. These results are consistent with the steroid hormones having effect on ameloblasts, raising the issues of the hormonal influence on amelogenesis and possible differences in enamel quality between sexes.

Published
2014
Full Text
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