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8 results on '"MESH: Myelin Proteins"'

1. Acetyl-CoA carboxylase and SREBP expression during peripheral nervous system myelination

Author

Lee A. Witters, Jérôme Salles, Françoise Sargueil, Bertrand Garbay, Claude Cassagne, Anja Knoll-Gellida, Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université, Laboratoire de biogenèse membranaire (LBM), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), and Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

Subjects
[SDV]Life Sciences [q-bio], MESH: CCAAT-Enhancer-Binding Proteins, Mice, Cytosol, 0302 clinical medicine, MESH: Cytosol, MESH: Reverse Transcriptase Polymerase Chain Reaction, Gene expression, MESH: Animals, MESH: Mice, Neurologic Mutants, MESH: Peripheral Nervous System, 0303 health sciences, Reverse Transcriptase Polymerase Chain Reaction, MESH: Gene Expression Regulation, Enzymologic, myelination, MESH: Transcription Factors, Trembler, Sciatic Nerve, Cell biology, DNA-Binding Proteins, Isoenzymes, acetyl-CoA carboxylase, MESH: Sciatic Nerve, medicine.anatomical_structure, Peripheral nervous system, MESH: Isoenzymes, MESH: DNA Probes, DNA Probes, Sterol Regulatory Element Binding Protein 1, Myelin Proteins, Gene isoform, medicine.medical_specialty, Blotting, Western, Biology, Gene Expression Regulation, Enzymologic, Mice, Neurologic Mutants, MESH: Sterol Regulatory Element Binding Protein 1, 03 medical and health sciences, Internal medicine, Peripheral Nervous System, medicine, Animals, MESH: Myelin Proteins, MESH: Blotting, Northern, MESH: Blotting, Western, RNA, Messenger, MESH: Mice, Molecular Biology, MESH: RNA, Messenger, 030304 developmental biology, Messenger RNA, Acetyl-CoA carboxylase, Promoter, Cell Biology, Blotting, Northern, biology.organism_classification, Sterol regulatory element-binding protein, Endocrinology, nervous system, sterol regulatory element binding protein, CCAAT-Enhancer-Binding Proteins, gene expression, MESH: Acetyl-CoA Carboxylase, MESH: DNA-Binding Proteins, 030217 neurology & neurosurgery, Transcription Factors
Abstract

International audience; The expression of acetyl-CoA carboxylase (ACC) in mouse peripheral nervous system (PNS) was investigated. Both ACC 265 and ACC 280 isoforms were expressed in the sciatic nerve, although ACC 265 was predominant. ACC 265 transcripts originating from promoters P1 and P2 could be detected in the developing nerve, as well as the two splice products, which are characterized by the presence or the absence of a 24-base sequence before the codon serine-1200. The mRNA levels for ACC 265 parallel those of other lipogenic genes whose expression is linked to the myelination process. In addition, ACC 265 mRNA and protein levels in the nerves of the trembler mutant, which is a mouse model of PNS dysmyelination, represented around 30% of the normal values. The expression of the sterol regulatory element-binding proteins (SREBPs) was also studied. SREBP 1 mRNAs were expressed at a constant level during nerve development, and their quantities were normal in trembler. On the contrary, SREBP 2 mRNA quantities varied during the myelination period similarly to the lipogenic gene mRNAs, and the levels measured in trembler represented only 10% of the normal values. Taken together, these results suggest that the coordinate expression of several lipogenic genes, which occurs during PNS myelination, could possibly be regulated by SREBP 2.

Published
2003

2. M2 muscarinic receptor activation regulates schwann cell differentiation and myelin organization

Author

Uggenti, Carolina, De Stefano, M Egle, Costantino, Michele, Loreti, Simona, Pisano, Annalinda, Avallone, Bice, Talora, Claudio, Magnaghi, Valerio, Tata, Ada Maria, Carolina, Uggenti, M., Egle De Stefano, Michele, Costantino, Simona, Loreti, Annalinda, Pisano, Avallone, Bice, Claudio, Talora, Valerio, Magnaghi, Ada Maria, Tata, Department of Biology and Biotechnology 'Charles Darwin', Institut Pasteur, Fondation Cenci Bolognetti - Istituto Pasteur Italia, Fondazione Cenci Bolognetti, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Center for Research in Neurobiology 'Daniel Bovet', Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Réseau International des Instituts Pasteur (RIIP), Department of Biology, Università degli studi di Napoli Federico II, Department of Farmaceutical and Biomolecular Sciences, University of Milan, Contract grant sponsor: Progetti di Ricerca 'Sapienza,' Universiy of Roma, contract grant number: C26A122HYC to (A.M.T.). Contract grant sponsor: Association Francaise Contre les Myopathies, and contract grant number: 14163/2012 (to V.M.). Contract grant sponsor: ASI (Italian Space Agency) (toM.E.D.S.)

Subjects
MESH: Signal Transduction, MESH: Axons, MESH: Myelin Sheath, Neurogenesis, Arecoline, acetylcholine, MESH: Peripheral Nervous System Agents, MESH: Mice, Knockout, muscarinic receptors, MESH: Nerve Degeneration, MESH: Arecoline, MESH: Myelin Proteins, Animals, MESH: Animals, RNA, Messenger, Rats, Wistar, MESH: Receptor, Muscarinic M4, Cells, Cultured, Myelin Sheath, MESH: RNA, Messenger, MESH: Receptor, Muscarinic M2, Mice, Knockout, Receptor, Muscarinic M2, Receptor, Muscarinic M4, electron microscopy, myelin protein, MESH: Rats, Wistar, MESH: Transcription Factors, Peripheral Nervous System Agents, muscarinic receptors, Schwann cells, acetylcholine, myelin proteins, transcription factors, Sciatic Nerve, Axons, MESH: Neurogenesis, MESH: Sciatic Nerve, nervous system, myelin proteins, schwann cells, transcription factors, Schwann cells, Nerve Degeneration, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Schwann Cells, MESH: Schwann Cells, Myelin Proteins, MESH: Cells, Cultured, Signal Transduction, Transcription Factors
Abstract

International audience; Glial cells express acetylcholine receptors. In particular, rat Schwann cells express different muscarinic receptor subtypes, the most abundant of which is the M2 subtype. M2 receptor activation causes a reversible arrest of the cell cycle. This negative effect on Schwann cell proliferation suggests that these cells may possibly progress into a differentiating program. In this study we analyzed the in vitro modulation, by the M2 agonist arecaidine, of transcription factors and specific signaling pathways involved in Schwann cell differentiation. The arecaidine-induced M2 receptor activation significantly upregulates transcription factors involved in the promyelinating phase (e.g., Sox10 and Krox20) and downregulates proteins involved in the maintenance of the undifferentiated state (e.g., c-jun, Notch-1, and Jagged-1). Furthermore, arecaidine stimulation significantly increases the expression of myelin proteins, which is accompanied by evident changes in cell morphology, as indicated by electron microscopy analysis, and by substantial cellular re-distribution of actin and cell adhesion molecules. Moreover, ultrastructural and morphometric analyses on sciatic nerves of M2/M4 knockout mice show numerous degenerating axons and clear alterations in myelin organization compared with wild-type mice. Therefore, our data demonstrate that acetylcholine mediates axon-glia cross talk, favoring Schwann cell progression into a differentiated myelinating phenotype and contributing to compact myelin organization.

Published
2014

3. The homeotic protein dlk is expressed during peripheral nerve development

Author

Christophe Côme, Jérôme Salles, Claude Cassagne, Anja Knoll-Gellida, Patricia Costaglioli, Bertrand Garbay, Unité de Nutrition Humaine (UNH), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Bordeaux Ségalen [Bordeaux 2], Laboratoire de biogenèse membranaire (LBM), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), and Institut National de la Recherche Agronomique (INRA)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université

Subjects
Nervous system, [SDV]Life Sciences [q-bio], Biochemistry, Mice, Myelin, 0302 clinical medicine, Structural Biology, delta-like protein, MESH: Gene Expression Regulation, Developmental, Gene expression, Schwann cells, MESH: Animals, DNA array, Oligonucleotide Array Sequence Analysis, MESH: Mice, Neurologic Mutants, 0303 health sciences, biology, nervous system, Intracellular Signaling Peptides and Proteins, Gene Expression Regulation, Developmental, myelination, Cell Differentiation, differentiation, Trembler, Sciatic Nerve, Phenotype, MESH: Sciatic Nerve, medicine.anatomical_structure, Peripheral nervous system, MESH: Membrane Proteins, Homeotic gene, Myelin Proteins, MESH: Cell Differentiation, MESH: Mutation, Biophysics, Schwann cell, MESH: Phenotype, Schwann cellsc, Mice, Neurologic Mutants, MESH: Gene Expression Profiling, 03 medical and health sciences, MESH: Mice, Inbred C57BL, MESH: Intracellular Signaling Peptides and Proteins, MESH: Homeodomain Proteins, Genetics, medicine, Animals, MESH: Blotting, Northern, MESH: Myelin Proteins, RNA, Messenger, MESH: Mice, Molecular Biology, MESH: RNA, Messenger, 030304 developmental biology, Homeodomain Proteins, Gene Expression Profiling, Membrane Proteins, Cell Biology, Blotting, Northern, biology.organism_classification, Molecular biology, Mice, Inbred C57BL, Mutation, MESH: Oligonucleotide Array Sequence Analysis, MESH: Schwann Cells, cDNA array, 030217 neurology & neurosurgery
Abstract

International audience; To investigate the molecular events controlling myelination of the peripheral nervous system, we compared gene expression of normal mouse sciatic nerves to that of the trembler mouse, whose Schwann cells are blocked in a pre-myelinating phenotype. Using cDNA array, we assessed expression levels of 1176 genes, and we found that delta-like protein (dlk), an epidermal growth factor-like homeotic protein, was expressed in the normal developing nerves, but at a low level in the dysmyelinating mutant trembler. Moreover, dlk expression was down-regulated when myelin protein expression was up-regulated, and no expression was observed in the developing brain. These results suggest that dlk expression is required for Schwann cell acquisition of the myelinating phenotype.

Published
2001

4. Trembler as a Mouse Model of CMT1A?

Author

Anja Knoll, Claude Cassagne, Jacques Bonnet, Jérôme Salles, Françoise Boiron-Sargueil, Bertrand Garbay, Anthony M. Heape, Unité de Nutrition Humaine (UNH), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and Institut National de la Recherche Agronomique (INRA)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Clermont Université

Subjects
Heterozygote, MESH: Myelin Sheath, [SDV]Life Sciences [q-bio], Mutant, Biology, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Mice, Mice, Neurologic Mutants, 03 medical and health sciences, Myelin, 0302 clinical medicine, History and Philosophy of Science, Charcot-Marie-Tooth Disease, MESH: Charcot-Marie-Tooth Disease, medicine, Animals, Humans, MESH: Myelin Proteins, MESH: Animals, MESH: Mice, Gene, Myelin Sheath, MESH: Heterozygote, MESH: Mice, Neurologic Mutants, 030304 developmental biology, Regulation of gene expression, Genetics, 0303 health sciences, Mutation, MESH: Humans, General Neuroscience, Homozygote, Heterozygote advantage, Trembler, biology.organism_classification, MESH: Gene Expression Regulation, Cell biology, Disease Models, Animal, medicine.anatomical_structure, Gene Expression Regulation, Peripheral nervous system, MESH: Disease Models, Animal, Myelin Proteins, 030217 neurology & neurosurgery, MESH: Homozygote
Abstract

International audience; The Trembler mouse suffers from a dominantly inherited autosomal mutation that results in an abnormal myelination of the peripheral nervous system. Biochemical studies have shown that dysmyelination is the primary event, demyelination being a late-occurring process. The expression of myelin protein genes has been studied. The steady-state levels for PMP22 mRNA represent 10 and 5% of normal values in the nerves of heterozygous and homozygous Trembler, respectively. This is due to a reduced expression of the specific transcript driven by the promoter 1 of the PMP22 gene. Collective results indicate that Trembler dysmyelination is not necessarily the consequence of a large accumulation of the mutated PMP22 protein. Moreover, it appears that the situation in the Trembler is different from that encountered in most CMT1A patients, where an increased PMP22 gene dosage is responsible for the disease. Therefore, the Trembler mutant is perhaps not an ideal model for this human neuropathy.; La souris Trembler souffre d'une mutation autosomique héréditaire dominante qui se traduit par une myélinisation anormale du système nerveux périphérique. Des études biochimiques ont montré que la dysmyélinisation est l'événement principal, la démyélinisation étant un processus tardif. L'expression des gènes de la protéine de la myéline a été étudiée. Les taux d'ARNm de PMP22 à l'état d'équilibre représentent respectivement 10 et 5 % des valeurs normales dans les nerfs des Trembleurs hétérozygotes et homozygotes. Ceci est dû à une expression réduite du transcrit spécifique piloté par le promoteur 1 du gène PMP22. Les résultats collectifs indiquent que la dysmyélinisation de Trembler n'est pas nécessairement la conséquence d'une accumulation importante de la protéine PMP22 mutée. De plus, il apparaît que la situation chez les Trembleurs est différente de celle rencontrée chez la plupart des patients CMT1A, où un dosage accru du gène PMP22 est responsable de la maladie. Par conséquent, le mutant Trembler n'est peut-être pas un modèle idéal pour cette neuropathie humaine.

Published
1999

5. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

Author

Christophe Charasse, Miguel A. Alonso, Rodrick Montjean, Dominique Pouthier, Leila Balafrej, Pierre Ronco, Jacques Dantal, Georges Deschênes, Jean-Michel Vallat, Eric LeGuern, Guillaume Canaud, Alain Bonnardeaux, Anne Guiochon-Mantel, Marie-Josèphe Tête, Olivier Gribouval, Olivia Boyer, Laurence Richard, Christelle Arrondel, Philippe Petiot, Geneviève Benoit, Odile Dubourg, Alexandre Karras, Evelyne Huynh Cong, Isabelle Broutin, Emmanuelle Plaisier, Corinne Antignac, Géraldine Mollet, Claire Pouteil-Noble, Marie-Claire Gubler, Sophie Saunier, Benoît Funalot, Patrice Deteix, Fabien Nevo, Néphropathies héréditaires et rein en développement (UMR_S 983), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de néphrologie pédiatrique [CHU 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 Paris Descartes - Paris 5 (UPD5), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Biochimie et Génétique Moléculaire [CHU Limoges], CHU Limoges, Centre de référence national neuropathies périphériques rares [CHU Limoges], Service de Neurologie [CHU Limoges], Service de néphrologie pédiatrique, Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], SARS International Centre for Marine Molecular Biology, Neuropathies héréditaires et rein en développement, Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe Avenir Tour Lavoisier, Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Service de néphrologie et transplantation, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de Recherche Guy- Bernier, Hôpital Maisonneuve-Rosemont, Service de transplantation et soins intensifs, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], CH de Saint-Brieuc, Service de Néphrologie et Immunologie Clinique, Hôtel Dieu-Centre hospitalier universitaire de Nantes (CHU Nantes), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Université Paris Diderot - Paris 7 (UPD7), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de neurologie, Hospices Civils de Lyon (HCL)-Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), Service de Néphrologie, Centre Hospitalier de Luxembourg [Luxembourg] (CHL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique moléculaire, pharmacogénétique et hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Laboratoire de cristallographie et RMN biologiques (LCRB - UMR 8015), Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université Paris Descartes - Paris 5 (UPD5), Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Service de Génétique Médicale [CHU Necker], Néphropathies héréditaires et rein en développement ( UMR_S 983 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Necker - Enfants Malades [AP-HP], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Université Paris Descartes - Paris 5 ( UPD5 ), Service de néphrologie et dialyses, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Tenon [APHP], Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université de Montréal-CHU Sainte Justine [Montréal], Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Hospices Civils de Lyon ( HCL ) -Centre Hospitalier Lyon Sud [CHU - HCL] ( CHLS ), Hospices Civils de Lyon ( HCL ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Hôtel Dieu-Centre hospitalier universitaire de Nantes ( CHU Nantes ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, Université Paris Diderot - Paris 7 ( UPD7 ), CHU Gabriel Montpied ( CHU ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Hospices Civils de Lyon ( HCL ) -Hôpital de la Croix-Rousse [CHU - HCL], Centre Hospitalier de Luxembourg, Centre de Référence pour les Epilepsies Rares, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP]-Centre de Référence pour les Epilepsies Rares, Service de Génétique [Pitié-Salpêtrière], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière ( CRICM ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Laboratoire de cristallographie et RMN biologiques ( LCRB - UMR 8015 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centro de Biología Molecular Severo Ochoa ( CBMSO ), Universidad Autonoma de Madrid ( UAM ) -Consejo Superior de Investigaciones Científicas [Spain] ( CSIC ), RONCO, Pierre, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), CHU de Saint-Brieuc, Agence Nationale de la Recherche (France), Association Française contre les Myopathies, Fondation pour la Recherche Médicale, Fonds de la Recherche en Sante du Québec, and Ministerio de Ciencia e Innovación (España)

Subjects
Male, Charcot–Marie–Tooth neuropathy, Pathology, MESH : Actins, MESH : Charcot-Marie-Tooth Disease, urologic and male genital diseases, Mice, Myelin, 0302 clinical medicine, MESH : Child, Charcot-Marie-Tooth Disease, MESH: Child, MESH: Charcot-Marie-Tooth Disease, Medicine, MESH: Animals, Age of Onset, Child, 0303 health sciences, MESH: Middle Aged, Glomerulosclerosis, Focal Segmental, General Medicine, female genital diseases and pregnancy complications, MESH : Age of Onset, 3. Good health, MESH : Phenotype, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Myelin maintenance, MESH: Young Adult, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Myelin and Lymphocyte-Associated Proteolipid Proteins, MESH: Proteolipids, MESH : Heterozygote, medicine.medical_specialty, Proteolipids, MESH: Age of Onset, MESH : Young Adult, Formins, MESH: Phenotype, MESH: Actins, 03 medical and health sciences, MESH : Adolescent, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, MESH: Myelin Proteins, MESH : Middle Aged, MESH: Adolescent, MESH: Humans, MESH : Humans, Membrane Transport Proteins, Kidney metabolism, MESH: Adult, medicine.disease, MESH : Glomerulosclerosis, Focal Segmental, INF2, Endocrinology, Mutation, MESH: Schwann Cells, MESH: Female, 030217 neurology & neurosurgery, Kidney, MESH: Membrane Transport Proteins, Glomerulosclerosis, Focal segmental glomerulosclerosis, MESH : Membrane Transport Proteins, Peripheral myelin protein 22, MESH : Myelin and Lymphocyte-Associated Proteolipid Proteins, MESH : Female, MESH: Heterozygote, Myelin and Lymphocyte-Associated Proteolipid Proteins, Microfilament Proteins, Middle Aged, MESH : Adult, MESH : Kidney, Phenotype, medicine.anatomical_structure, Female, MESH : Mutation, Myelin Proteins, Adult, Heterozygote, MESH: Mutation, Adolescent, MESH : Microfilament Proteins, MESH: Glomerulosclerosis, Focal Segmental, MESH : Male, MESH : Schwann Cells, MESH : Myelin Proteins, Young Adult, MESH: Microfilament Proteins, Glomerulopathy, Internal medicine, MESH : Mice, Animals, MESH: Mice, 030304 developmental biology, urogenital system, business.industry, Myelin protein zero, MESH: Kidney, Actins, MESH: Male, MESH : Proteolipids, Schwann Cells, MESH : Animals, business
Abstract

Backgrounds: Charcot–Marie–Tooth neuropathy has been reported to be associated with renal diseases, mostly focal segmental glomerulosclerosis (FSGS). However, the common mechanisms underlying the neuropathy and FSGS remain unknown. Mutations in INF2 were recently identified in patients with autosomal dominant FSGS. INF2 encodes a formin protein that interacts with the Rho-GTPase CDC42 and myelin and lymphocyte protein (MAL) that are implicated in essential steps of myelination and myelin maintenance. We therefore hypothesized that INF2 may be responsible for cases of Charcot–Marie–Tooth neuropathy associated with FSGS., Methods: We performed direct genotyping of INF2 in 16 index patients with Charcot–Marie–Tooth neuropathy and FSGS who did not have a mutation in PMP22 or MPZ, encoding peripheral myelin protein 22 and myelin protein zero, respectively. Histologic and functional studies were also conducted., Methods: We identified nine new heterozygous mutations in 12 of the 16 index patients (75%), all located in exons 2 and 3, encoding the diaphanous-inhibitory domain of INF2. Patients presented with an intermediate form of Charcot–Marie–Tooth neuropathy as well as a glomerulopathy with FSGS on kidney biopsy. Immunohistochemical analysis revealed strong INF2 expression in Schwann-cell cytoplasm and podocytes. Moreover, we demonstrated that INF2 colocalizes and interacts with MAL in Schwann cells. The INF2 mutants perturbed the INF2–MAL–CDC42 pathway, resulting in cytoskeleton disorganization, enhanced INF2 binding to CDC42 and mislocalization of INF2, MAL, and CDC42., Conclusions: INF2 mutations appear to cause many cases of FSGS-associated Charcot–Marie–Tooth neuropathy, showing that INF2 is involved in a disease affecting both the kidney glomerulus and the peripheral nervous system. These findings provide new insights into the pathophysiological mechanisms linking formin proteins to podocyte and Schwann-cell function., Funded by the Agence Nationale de la Recherche and others.Supported by grants from the Association pour l'Utilisation du Rein Artificiel (to Dr. Antignac), Association Française contre les Myopathies (ANR-08-GENOPAT-017-01, to Dr. Antignac), Agence Nationale de la Recherche (PodoNet project number ANR-07-E-RARE-011-01 in the ERA-Net Consortium [JTC2007], to Dr. Antignac, and ANR-06-MRAR-024-01, to Dr. Leguern), Fondation pour la Recherche Médicale (project number DMP 2010-11-20-386, to Dr. Antignac, and doctoral funding, to Dr. Boyer), Association des Malades du Syndrome Néphrotique (to Dr. Mollet), Fonds de la Recherche en Santé du Québec (Fellowship Training Award to Dr. Benoit), and Ministerio de Ciencia e Innovación (BFU2009-07886 and CONSOLIDER COAT CSD2009-00016, to Dr. Alonso).

Published
2011

6. Endogenous estrogens, through estrogen receptor α, constrain autoimmune inflammation in female mice by limiting CD4+ T-cell homing into the CNS

Author

Lucette Pelletier, Jean-Charles Guéry, Karine Lélu, Virginie Robert, Britta Engelhardt, Sophie Laffont, Laurent Delpy, Eliane Foulon, Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Interactions hôtes-agents pathogènes [Toulouse] (IHAP), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, and Centre National de la Recherche Scientifique (CNRS)-Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)

Subjects
CD4-Positive T-Lymphocytes, Adoptive cell transfer, Estrogen receptor, Inbred C57BL, MESH: Estrogens, MESH: Mice, Knockout, Mice, 0302 clinical medicine, Cell Movement, Immunology and Allergy, MESH: Animals, Encephalomyelitis, MESH: Cell Movement, MESH: Estrogen Receptor alpha, Cells, Cultured, Mice, Knockout, Cultured, biology, Brain, MESH: CD4-Positive T-Lymphocytes, Adoptive Transfer, Myelin-Associated Glycoprotein, medicine.anatomical_structure, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, medicine.symptom, Inflammation Mediators, Myelin Proteins, MESH: Cells, Cultured, medicine.medical_specialty, Encephalomyelitis, Autoimmune, Experimental, Multiple Sclerosis, medicine.drug_class, Knockout, Ovariectomy, Cells, Immunology, MESH: Inflammation Mediators, MESH: Ovariectomy, Inflammation, Myelin oligodendrocyte glycoprotein, 03 medical and health sciences, Experimental, MESH: Brain, Immune system, MESH: Mice, Inbred C57BL, Internal medicine, medicine, Animals, Humans, MESH: Myelin Proteins, MESH: Myelin-Associated Glycoprotein, MESH: Encephalomyelitis, Autoimmune, Experimental, MESH: Mice, MESH: Humans, Animal, Estrogen Receptor alpha, Estrogens, MESH: Multiple Sclerosis, Oligodendrocyte, Mice, Inbred C57BL, Disease Models, Animal, MESH: Adoptive Transfer, MESH: Cytoprotection, Endocrinology, Estrogen, Cytoprotection, Disease Models, biology.protein, Myelin-Oligodendrocyte Glycoprotein, MESH: Disease Models, Animal, MESH: Female, 030217 neurology & neurosurgery, 030215 immunology, Hormone, Autoimmune
Abstract

International audience; Sex hormones influence immune responses and the development of autoimmune diseases including MS and its animal model, EAE. Although it has been previously reported that ovariectomy could worsen EAE, the mechanisms implicated in the protective action of endogenous ovarian hormones have not been addressed. In this report, we now show that endogenous estrogens limit EAE development and CNS inflammation in adult female mice through estrogen receptor α expression in the host non-hematopoietic tissues. We provide evidence that the enhancing effect of gonadectomy on EAE development was due to quantitative rather than qualitative changes in effector Th1 or Th17 cell recruitment into the CNS. Consistent with this observation, adoptive transfer of myelin oligodendrocyte glycoprotein-specific encephalitogenic CD4(+) T lymphocytes induced more severe EAE in ovariectomized mice as compared to normal female mice. Finally, we show that gonadectomy accelerated the early recruitment of inflammatory cells into the CNS upon adoptive transfer of encephalitogenic CD4(+) T cells. Altogether, these data show that endogenous estrogens, through estrogen receptor α, exert a protective effect on EAE by limiting the recruitment of blood-derived inflammatory cells into the CNS.

Published
2010

7. Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease

Author

Giovanni Levi, Luana Benedetti, Marina Grandis, Tiziana Vigo, Stefano Mantero, Angelo Schenone, Gianluigi Mancardi, Michele Abbruzzese, Lucilla Nobbio, Claudio Brancolini, Evolution des régulations endocriniennes (ERE), Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), Interfaces, Traitements, Organisation et Dynamique des Systèmes (ITODYS (UMR_7086)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut Jacques Monod (IJM (UMR_7592)), Istituto Clinico Humanitas [Milan] (IRCCS Milan), Humanitas University [Milan] (Hunimed), Department of Neuroscience, Ophtalmology and Genetics, Genova, and Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)

Subjects
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Cell, Stimulation, Animals, Genetically Modified, Myelin, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, MESH: Charcot-Marie-Tooth Disease, MESH: Animals, Axon, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, 0303 health sciences, Cell Differentiation, Motility, Schwann cell, Cell biology, medicine.anatomical_structure, Neurology, CMT1A, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Hereditary neuropathy, Myelin Proteins, MESH: Cells, Cultured, MESH: Cell Differentiation, MESH: Rats, Transgene, Biology, lcsh:RC321-571, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, MESH: Animals, Genetically Modified, 03 medical and health sciences, medicine, Animals, MESH: Myelin Proteins, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BDD.MOR]Life Sciences [q-bio]/Development Biology/Morphogenesis, Rats, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, PMP22, nervous system, Immunology, Schwann Cells, MESH: Schwann Cells, 030217 neurology & neurosurgery
Abstract

International audience; Charcot-Marie-Tooth type 1A (CMT1A) is a hereditary demyelinating neuropathy due to an increased genetic dosage of the peripheral myelin protein 22 (PMP22). The mechanisms leading from PMP22 overexpression to impairment of myelination are still unclear. We evaluated expression and processing of PMP22, viability, proliferation, migration, motility and shaping properties, and ability of forming myelin of PMP22 transgenic (PMP22(tg)) Schwann cells in culture. In basal conditions, PMP22(tg) Schwann cells, although expressing higher PMP22 levels than control ones, show normal motility, migration and shaping properties. Addition of forskolin to the media induces an additional stimulation of PMP22 expression and results in an impairment of cells migration and motility, and a reduction of cell area and perimeter. Similarly, co-culturing transgenic Schwann cells with neurons causes an altered cells differentiation and an impairment of myelin formation. In conclusion, exposure of PMP22(tg) Schwann to the axon or to axonal-mimicking stimuli significantly affects the transition of transgenic Schwann cells to the myelinating phenotype.

Published
2004

8. [The involvement of myelin proteins in hereditary neuropathies]

Author

p sindou, Anani, T., Garbay, B., Couratier, P., Lagrange, E., Vallat, J., Service de Neurologie [CHU Limoges], CHU Limoges, Lab. de Biogenèse Membranaire, UMR-CNRS, 5544, Univ. Victor Segalen Bordeaux II, Bordeaux, France, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), and Sindou, Philippe

Subjects
Male, DNA, Complementary, MESH: Gene Expression, Genotype, MESH: Chromosomes, Human, Pair 1, DNA Mutational Analysis, MESH: Membrane Glycoproteins, MESH: Gap Junctions, Gene Expression, Chromosome Disorders, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, MESH: Phenotype, Severity of Illness Index, Connexins, MESH: Genotype, Charcot-Marie-Tooth Disease, MESH: Severity of Illness Index, MESH: Charcot-Marie-Tooth Disease, Humans, Point Mutation, MESH: Myelin Proteins, MESH: Chromosome Aberrations, MESH: DNA Mutational Analysis, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Alleles, MESH: Point Mutation, Chromosome Aberrations, MESH: Chromosome Disorders, Membrane Glycoproteins, MESH: Humans, MESH: Alleles, Gap Junctions, MESH: DNA, Complementary, MESH: Male, MESH: Connexins, Phenotype, Chromosomes, Human, Pair 1, Female, MESH: Female, Myelin Proteins
Abstract

International audience; Hereditary sensoro-motor neuropathies such as Charcot-Marie-Tooth disease (CMT) form a heterogeneous group including some genetic conditions whose clinical manifestations differ in severity within a group or even within a sub-group. Diagnosis is based on the clinical, electrophysiological and pathological findings along with a genetic analysis. The current classification of CMT encompasses the clinical signs, mode of transmission, genomic localization and identification of the proteins actually involved. Several authors have identified the mutations on genes coding for proteins of peripheral myelin in CMT patients. Recent advances in molecular genetics have thrown more light on the differences between phenotypes within a sub-group, and have established genotype-phenotype relationships. It has been shown recently that the severity of the clinical signs depends on the nature and site of various mutations affecting the genes coding for certain myelin proteins. These mutations give rise to "dominant negative effects" or "mutations with loss of function of the allele". These observations may be extended to other proteins as many of them belong to the super family of immunoglobulins and have similar structures. In this study, we present a review of the literature focussing on the principal myelin proteins and the genomic modifications observed in patients with CMT.

Published
1999

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