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2. Biologie cellulaire : Nouveaux exercices corrigés et commentés

Author

Cau, Pierre, Frankel, Diane, Kaspi, Élise, Cau, Pierre, Cau, Pierre, Frankel, Diane, Kaspi, Élise, and Cau, Pierre

Abstract

La collection PASS - Licence santé propose des outils indispensables pour évaluer ses connaissances et son degré de compréhension des cours pour toutes les nouvelles matières de la PASS et de la LAS :Préparer les épreuves du nouveau concours;Réviser régulièrement les notions fondamentales du cours et évaluer ses connaissances ;Compléter et améliorer ses révisions grâce à des entraînements complets.L’objectif de cet ouvrage est de proposer des exercices permettant d’ancrer des notions fondamentales de Biologie cellulaire. Il vise aussi à les entraîner à la méthode travaillée en présentiel au cours des enseignements dirigés, afin qu’ils comprennent les principes et les objectifs de la démarche expérimentale.Pour cela, l’ouvrage propose deux types d’exercices sous forme de QCM: des schémas non légendés et des questions basées sur des problèmes expérimentaux.

Published
2022

8. Nuclear localization of a novel human syntaxin 1B isoform

Author

Pereira, Sandrine, Massacrier, Annick, Roll, Patrice, Vérine, Alain, Etienne-Grimaldi, Marie-Christine, Poitelon, Yannick, Robaglia-Schlupp, Andrée, Jamali, Sarah, Roeckel-Trevisiol, Nathalie, Royer, Barbara, Pontarotti, Pierre, Lévêque, Christian, Seagar, Michael, Lévy, Nicolas, Cau, Pierre, and Szepetowski, Pierre

Published
2008
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10. Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging

Author

Varela, Ignacio, Pereira, Sandrine, Ugalde, Alejandro P., Navarro, Claire L, Suarez, Maria F., Cau, Pierre, Cadinanos, Juan, Osorio, Fernando G., Foray, Nicolas, Cobo, Juan, de Carlos, Felix, Levy, Nicolas, Freije, Jose M.P., and Lopez-Otin, Carlos

Subjects
Diphosphonates -- Health aspects, Progeria -- Risk factors, Progeria -- Drug therapy, Progeria -- Research, Aging -- Research, Statins -- Health aspects
Abstract

Several human progeroas, including Hutchinson-Gilford progeria syndrome (HGPS), are caused by the accumulation at the nuclear envelope of farnesylated forms of truncated prelamin A, a protein that is also altered during normal aging (1,2). Previous studies in cells from individuals with HGPS have shown that farnesyltransferase inhibitors (FTIs) improve nuclear abnormalities associated with prelamin A accumulation, suggesting that these compounds could represent a therapeutic approach for this devastating progeroid syndrome (3). We show herein that both prelamin A and its truncated form progerin/LA[DELTA]50 undergo alternative prenylation by geranylgeranyltransferase in the setting of farnesyltransferase inhibition, which could explain the low efficiency of FTIs in ameliorating the phenotypes of progeroid mouse models. We also show that a combination of statins and amino-bisphosphonates efficiently inhibits both farnesylation and geranylgeranylation of progerin and prelamin A and markedly improves the aging-like phenotypes of mice deficient in the metalloproteinase Zmpste24, including growth retardation, loss of weight, lipodystrophy, hair loss and bone defects. Likewise, the longevity of these mice is substantially extended. These findings open a new therapeutic approach for human progeroid syndromes associated with nuclear-envelope abnormalities., The elucidation of some molecular mechanisms underlying human aging has been facilitated by studies on segmental progeroid syndromes such as HGPS (4), a fatal disease for which there is currently [...]

Published
2008

12. MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromes

Author

Harhouri, Karim, primary, Cau, Pierre, additional, Casey, Frank, additional, Mawuse, Guedenon Koffi, additional, Doubaj, Yassamine, additional, Van Maldergem, Lionel, additional, Mejia-Baltodano, Gerardo, additional, Bartoli, Catherine, additional, De Sandre-Giovannoli, Annachiara, additional, and Lévy, Nicolas, additional

Published
2021
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21. SRPX2 mutations in disorders of language cortex and cognition

Author

Roll, Patrice, Rudolf, Gabrielle, Pereira, Sandrine, Royer, Barbara, Scheffer, Ingrid E., Massacrier, Annick, Valenti, Maria-Paola, Roeckel-Trevisiol, Nathalie, Jamali, Sarah, Beclin, Christophe, Seegmuller, Caroline, Metz-Lutz, Marie-Noëlle, Lemainque, Arnaud, Delepine, Marc, Caloustian, Christophe, Martin, Anne de Saint, Bruneau, Nadine, Depétris, Danièle, Mattéi, Marie-Geneviève, Flori, Elisabeth, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Neubauer, Bernd A., Ravid, Rivka, Marescaux, Christian, Berkovic, Samuel F., Hirsch, Edouard, Lathrop, Mark, Cau, Pierre, and Szepetowski, Pierre

Published
2006

22. Large-scale expression study of human mesial temporal lobe epilepsy: evidence for dysregulation of the neurotransmission and complement systems in the entorhinal cortex

Author

Jamali, Sarah, Bartolomei, Fabrice, Robaglia-Schlupp, Andrée, Massacrier, Annick, Peragut, Jean-Claude, Régis, Jean, Dufour, Henri, Ravid, Rivka, Roll, Patrice, Pereira, Sandrine, Royer, Barbara, Roeckel-Trevisiol, Nathalie, Fontaine, Marc, Guye, Maxime, Boucraut, José, Chauvel, Patrick, Cau, Pierre, and Szepetowski, Pierre

Published
2006

24. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Author

Navarro, Claire L., De Sandre-Giovannoli, Annachiara, Bernard, Rafaëlle, Boccaccio, Irène, Boyer, Amandine, Geneviève, David, Hadj-Rabia, Smail, Gaudy-Marqueste, Caroline, Smitt, Henk Sillevis, Vabres, Pierre, Faivre, Laurence, Verloes, Alain, Van Essen, Ton, Flori, Elisabeth, Hennekam, Raoul, Beemer, Frits A., Laurent, Nicole, Le Merrer, Martine, Cau, Pierre, and Lévy, Nicolas

Published
2004

27. Lamin A Truncation in Hutchinson-Gilford Progeria

Author

De Sandre-Giovannoli, Annachiara, Bernard, Rafaëlle, Cau, Pierre, Navarro, Claire, Amiel, Jeanne, Boccaccio, Irène, Lyonnet, Stanislas, Stewart, Colin L., Munnich, Arnold, Merrer, Martine Le, and Lévy, Nicolas

Published
2003

34. Results

Author

Cau, Pierre, Michel-Béchet, Marc, Fayet, Guy, Brodal, A., editor, Hild, W., editor, van Limborgh, J., editor, Ortmann, R., editor, Schiebler, T. H., editor, Töndury, G., editor, Wolff, E., editor, Cau, Pierre, Michel-Béchet, Marc, and Fayet, Guy

Published
1976
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35. Discussion

Author

Cau, Pierre, Michel-Béchet, Marc, Fayet, Guy, Brodal, A., editor, Hild, W., editor, van Limborgh, J., editor, Ortmann, R., editor, Schiebler, T. H., editor, Töndury, G., editor, Wolff, E., editor, Cau, Pierre, Michel-Béchet, Marc, and Fayet, Guy

Published
1976
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36. Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

Author

Levasseur Anthony, Blancher Antoine, Robaglia-Schlupp Andrée, Roll Patrice, Bontrop Ronald E, Barlow Paul N, Soares Dinesh C, Royer Barbara, Cau Pierre, Pontarotti Pierre, and Szepetowski Pierre

Subjects
Genetics, QH426-470
Abstract

Abstract Background The X-linked SRPX2 gene encodes a Sushi Repeat-containing Protein of unknown function and is mutated in two disorders of the Rolandic/Sylvian speech areas. Since it is linked to defects in the functioning and the development of brain areas for speech production, SRPX2 may thus have participated in the adaptive organization of such brain regions. To address this issue, we have examined the recent molecular evolution of the SRPX2 gene. Results The complete coding region was sequenced in 24 human X chromosomes from worldwide populations and in six representative nonhuman primate species. One single, fixed amino acid change (R75K) has been specifically incorporated in human SRPX2 since the human-chimpanzee split. The R75K substitution occurred in the first sushi domain of SRPX2, only three amino acid residues away from a previously reported disease-causing mutation (Y72S). Three-dimensional structural modeling of the first sushi domain revealed that Y72 and K75 are both situated in the hypervariable loop that is usually implicated in protein-protein interactions. The side-chain of residue 75 is exposed, and is located within an unusual and SRPX-specific protruding extension to the hypervariable loop. The analysis of non-synonymous/synonymous substitution rate (Ka/Ks) ratio in primates was performed in order to test for positive selection during recent evolution. Using the branch models, the Ka/Ks ratio for the human branch was significantly different (p = 0.027) from that of the other branches. In contrast, the branch-site tests did not reach significance. Genetic analysis was also performed by sequencing 9,908 kilobases (kb) of intronic SRPX2 sequences. Despite low nucleotide diversity, neither the HKA (Hudson-Kreitman-Aguadé) test nor the Tajima's D test reached significance. Conclusion The R75K human-specific variation occurred in an important functional loop of the first sushi domain of SRPX2, indicating that this evolutionary mutation may have functional importance; however, positive selection for R75K could not be demonstrated. Nevertheless, our data contribute to the first understanding of molecular evolution of the human SPRX2 gene. Further experiments are now required in order to evaluate the possible consequences of R75K on SRPX2 interactions and functioning.

Published
2007
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37. Prediction of Disease-associated Genes by advanced Random Walk with Restart on Multiplex and Heterogeneous Biological Networks

Author

Valdeolivas, Alberto, Remy, Elisabeth, Tichit, Laurent, Odelin, Gaëlle, Navarro, Claire, Perrin, Sophie, Cau, Pierre, Levy, Nicolas, Baudot, Anaïs, Institut de Mathématiques de Marseille (I2M), Aix Marseille Université (AMU)-École Centrale de Marseille (ECM)-Centre National de la Recherche Scientifique (CNRS), and Tichit, Laurent

Subjects
Biological Networks, Disease-Gene Prioritization, Multiplex and Heterogeneous Networks, Random Walks with Restart, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]
Abstract

International audience; Rare monogenic diseases globally affect millions of persons, but many causative genes remain to be discovered. Several computational approaches have been developed to predict disease-associated genes. Guilt-by-association strategies on protein interaction networks, in particular, postulate that proteins lying in a close network vicinity are functionally-related and implicated in similar phenotypes. However, current network approaches are limited as they do not exploit the richness of biological networks, which are both multiplex (i.e., containing different layers of physical and functional interactions between genes and proteins), and heterogeneous (i.e., containing both interactions between genes/proteins, and interactions between diseases). In the present study, we extended the Random Walk with Restart algorithm to leverage these complex biological networks. We compared our algorithm to classical random walks thanks to a leave-one-out strategy. The Random Walk with Restart on multiplex and heterogeneous networks takes advantage of data pluralism and shows increased performances to predict known disease-associated genes. We finally applied it to predict candidate genes for the Wiedemann-Rautenstrauch Syndrome.

Published
2017

39. Introduction

Author

Cau, Pierre, Michel-Béchet, Marc, Fayet, Guy, Brodal, A., editor, Hild, W., editor, van Limborgh, J., editor, Ortmann, R., editor, Schiebler, T. H., editor, Töndury, G., editor, Wolff, E., editor, Cau, Pierre, Michel-Béchet, Marc, and Fayet, Guy

Published
1976
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40. Thermodynamic study of the interaction between calcium and zoledronic acid by calorimetry

Author

Piccerelle, Philippe, Cau, Pierre, Lévy, Nicolas, Gallice, Philippe, Bergé-Lefranc, David, Larbi, Mohamed A. Mostefa Side, Sauzet, Christophe, Mostefa, Mohamed, Larbi, Side, Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UMR237-Aix Marseille Université (AMU)-Avignon Université (AU), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, Chemistry, chemistry.chemical_element, Ionic bonding, Isothermal titration calorimetry, Calorimetry, Calcium, 010402 general chemistry, 01 natural sciences, Binding constant, Atomic and Molecular Physics, and Optics, 0104 chemical sciences, 03 medical and health sciences, 030104 developmental biology, Biochemistry, Biophysics, Molecule, General Materials Science, Physical and Theoretical Chemistry, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, Mode of action, Calcium disorder
Abstract

International audience; Bisphosphonates (BPs) are widely used to treat calcium disorders because of their structural and functional similarities with the organic pyrophosphates present in plasma and urine. BPs are well known for their strong interactions with calcium, and they have been shown to bind to hydroxyapatite or bone; however, no model exists for studying in greater detail how BPs and particularly amino-bisphosphonates (N-BPs) such as zolendronate (Zol) bind to free calcium. The aim of this work was to determine the effect of pH on Ca2+/Zol complex formation using isothermal titration calorimetry (ITC) because these effects might have important implications for the future development of a solid dosage form. In this study, using a predictive model, we can observe, the existence of three Ca2+/Zol complexes. Knowledge of the binding constant for each complex is helpful for predicting the predominance of the different species at different Ca2+/Zol ratios. Binding is due to ionic interaction between Ca2+ and the negative charges formed by dissociated Zol as a function of the pKa. Ca2+ fixation induces a strong rearrangement of the surrounding water molecules and causes proton release or uptake. The pH-dependent affinity of calcium for each site based on the model used in this work is proposed in detail, which might facilitate the development of new bisphosphonates and enable further elucidation of their mode of action. (C) 2016 Elsevier Ltd. All rights reserved.

Published
2016
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41. Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status

Author

Kaspi, Elise, primary, Frankel, Diane, additional, Guinde, Julien, additional, Perrin, Sophie, additional, Laroumagne, Sophie, additional, Robaglia-Schlupp, Andrée, additional, Ostacolo, Kevin, additional, Harhouri, Karim, additional, Tazi-Mezalek, Rachid, additional, Micallef, Joelle, additional, Dutau, Hervé, additional, Tomasini, Pascale, additional, De Sandre-Giovannoli, Annachiara, additional, Lévy, Nicolas, additional, Cau, Pierre, additional, Astoul, Philippe, additional, and Roll, Patrice, additional

Published
2017
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43. Random walk with restart on multiplex and heterogeneous biological networks.

Author

Valdeolivas, Alberto, Tichit, Laurent, Remy, Elisabeth, Baudot, Anaïs, Navarro, Claire, Perrin, Sophie, Odelin, Gaëlle, Cau, Pierre, and Levy, Nicolas

Subjects
RANDOM walks, BIOLOGICAL networks, BIOMOLECULES, BIOINFORMATICS, PROTEIN-protein interactions
Abstract

Motivation Recent years have witnessed an exponential growth in the number of identified interactions between biological molecules. These interactions are usually represented as large and complex networks, calling for the development of appropriated tools to exploit the functional information they contain. Random walk with restart (RWR) is the state-of-the-art guilt-by-association approach. It explores the network vicinity of gene/protein seeds to study their functions, based on the premise that nodes related to similar functions tend to lie close to each other in the networks. Results In this study, we extended the RWR algorithm to multiplex and heterogeneous networks. The walk can now explore different layers of physical and functional interactions between genes and proteins, such as protein–protein interactions and co-expression associations. In addition, the walk can also jump to a network containing different sets of edges and nodes, such as phenotype similarities between diseases. We devised a leave-one-out cross-validation strategy to evaluate the algorithms abilities to predict disease-associated genes. We demonstrate the increased performances of the multiplex-heterogeneous RWR as compared to several random walks on monoplex or heterogeneous networks. Overall, our framework is able to leverage the different interaction sources to outperform current approaches. Finally, we applied the algorithm to predict candidate genes for the Wiedemann–Rautenstrauch syndrome, and to explore the network vicinity of the SHORT syndrome. Availability and implementation The source code is available on GitHub at: https://github.com/alberto-valdeolivas/RWR-MH. In addition, an R package is freely available through Bioconductor at: http://bioconductor.org/packages/RandomWalkRestartMH/. Supplementary information Supplementary data are available at Bioinformatics online. [ABSTRACT FROM AUTHOR]

Published
2019
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45. Impact of cART on CD8+T cell senescence: the ANRS EP45-aging study

Author

Zaegel-Faucher, Olivia, primary, Nicolino-Brunet, Corinne, additional, Jouve, Elisabeth, additional, Reynes, Jacques, additional, Dellamonica, Pierre, additional, Truillet, Romain, additional, Solas, Caroline, additional, Tamalet, Catherine, additional, Cau, Pierre, additional, and Poizot-Martin, Isabelle, additional

Published
2016
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46. Summary

Author

Cau, Pierre, Michel-Béchet, Marc, Fayet, Guy, Brodal, A., editor, Hild, W., editor, van Limborgh, J., editor, Ortmann, R., editor, Schiebler, T. H., editor, Töndury, G., editor, Wolff, E., editor, Cau, Pierre, Michel-Béchet, Marc, and Fayet, Guy

Published
1976
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47. Correction: HIV Protease Inhibitors Do Not Cause the Accumulation of Prelamin A in PBMCs from Patients Receiving First Line Therapy: The ANRS EP45 'Aging' Study

Author

Perrin, Sophie, Cremer, Jonathan, Faucher, Olivia, Reynes, Jacques, Dellamonica, Pierre, Micallef, Joëlle, Solas, Caroline, Lacarelle, Bruno, Stretti, Charlotte, Kaspi, Elise, Robaglia-Schlupp, Andrée, Nicolino-Brunet, Corine, Tamalet, Catherine, Lévy, Nicolas, Poizot-Martin, Isabelle, Cau, Pierre, and Roll, Patrice

Subjects
Multidisciplinary, Science, lcsh:R, Correction, lcsh:Medicine, Medicine, lcsh:Q, lcsh:Science
Published
2013
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48. Cytology-based treatment decision in primary lung cancer: Is it accurate enough?

Author

Roll, Patrice, Roca, Elisa, Lacroix, Romaric, Judicone, Coralie, Laroumagne, Sophie, Robert, Stéphane, Cointe, Sylvie, Muller, Alexandre, Kaspi, Elise, Brisson, Alain, Tantucci, Claudio, Astoul, Philippe, Dignat-George, Françoise, Barthélémy, Florian, Navarro, Claire, Fayek, Racha, Da Silva, Nathalie, Sigaudy, Sabine, Oshima, Junko, Bonne, Gisèle, Papadopoulou-Legbelou, Kyriaki, Evangeliou, Athanasios, Spilioti, Martha, LeMerrer, Martine, Wevers, Ron, Morava, Eva, Robaglia-Schlupp, Andrée, Lévy, Nicolas, Bartoli, Marc, De Sandre-Giovannoli, Annachiara, Hadj-Rabia, Smail, Mashiah, Jacob, Boyer, Amandine, Bourgeois, Patrice, Van Kien, Philippe Khau, Bodemer, Christine, Navarro, Claire Laure, Esteves-Vieira, Vera, Courrier, Sébastien, Duong Nguyen, Thuy, Huong, Le Thi Thanh, Meinke, Peter, Schröder, Winnie, Cormier-Daire, Valérie, Sznajer, Yves, Amor, David, Lagerstedt, Kristina, Biervliet, Martine, van den Akker, Peter, Cau, Pierre, BADENS, Catherine, Wehnert, Manfred, Sakr, Lama, Payan, Marie-José, Liprandi, Agnès, Dutau, Hervé, Loundou, Anderson, Barlesi, Fabrice, Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), Laboratoire de Biologie Cellulaire [Hôpital de la Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)

Subjects
Adult, Male, Pulmonary and Respiratory Medicine, Cancer Research, medicine.medical_specialty, Pathology, Lung Neoplasms, Cytodiagnosis, [SDV]Life Sciences [q-bio], Cytological Techniques, Adenocarcinoma of Lung, Adenocarcinoma, Malignancy, 03 medical and health sciences, 0302 clinical medicine, Bronchoscopy, Carcinoma, Non-Small-Cell Lung, Biopsy, medicine, Carcinoma, Humans, Neoplasms, Squamous Cell, Lung cancer, ComputingMilieux_MISCELLANEOUS, Aged, Retrospective Studies, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, medicine.diagnostic_test, business.industry, Biopsy, Needle, Not Otherwise Specified, Middle Aged, medicine.disease, Small Cell Lung Carcinoma, respiratory tract diseases, 3. Good health, Oncology, 030220 oncology & carcinogenesis, Female, Radiology, business
Abstract

Accurate distinction of lung cancer types has become increasingly important as recent trials have shown differential response to chemotherapy among non-small cell lung carcinoma (NSCLC) subtypes. Cytological procedures are frequently used but their diagnostic accuracy has been previously questioned. However, new endoscopic and cytological techniques might have improved cytological accuracy in comparison with prior findings. The aim of this study was to reassess cytological accuracy for diagnosis of lung cancer subtypes. A retrospective chart review of subjects who underwent fiberoptic bronchoscopy (FOB) for suspicion of lung cancer in 2007–2008, was undertaken. Reports of bronchoscopically derived cytological specimens were compared to those of histological material. Endoscopic findings and specific investigational techniques were taken into account. A total of 467 FOB with both cytological and histological diagnostic techniques were performed in 449 subjects. Patients consisted of 345 men and 104 women (median age, 65 yrs). Cytology proved malignancy in 157 patients. Cytologically diagnosed carcinomas were classified into squamous cell carcinoma (SqCC) in 56, adenocarcinoma (ADC) in 6, small cell lung carcinoma (SCLC) in 12, non-small cell lung carcinoma not otherwise specified (NSCLC-NOS) in 71, and unclassified carcinoma in 12. Cytology correlated fairly with biopsy specimens, as agreement was observed in 83% of SCLC, 100% of ADC, 74% of SqCC and 8% of NSCLC-NOS. Interestingly, 61% of cytologically identified NSCLC-NOS were classified as ADC by histology. Cytological accuracy improved in case of an endobronchial lesion, mainly for SqCC. These results indicate that cytological accuracy remains fair with regard to diagnosis of squamous and non-squamous lung cancer subtypes. Improvement of cytological accuracy is expected however with novel diagnostic strategies.

Published
2012
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49. High prevalence of laminopathies among patients with metabolic syndrome

Author

Roll, Patrice, Perrin, Sophie, Cremer, Jonathan, Faucher, Olivia, Reynes, Jacques, Dellamonica, Pierre, Micallef, Joëlle, Solas, Caroline, Lacarelle, Bruno, Stretti, Charlotte, Kaspi, Elise, Robaglia-Schlupp, Andrée, Tamalet, Corine Nicolino-Brunet Catherine, Lévy, Nicolas, Poizot-Martin, Isabelle, Cau, Pierre, Dutour, Anne, Gaborit, Bénédicte, Courrier, Sébastien, Alessi, Marie-Christine, Tregouet, David-Alexandre, Angelis, Fabien, Lesavre, Nathalie, BADENS, Catherine, Morange, Pierre-Emmanuel, Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM), Laboratoire de Biologie Cellulaire [Hôpital de la Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Département de génétique médicale [Hôpital de la Timone - APHM], and Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Dunnigan familial partial lipodystrophy, [SDV]Life Sciences [q-bio], Mutation, Missense, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, LMNA, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Metabolic Syndrome, 0303 health sciences, Mutation, integumentary system, Membrane Proteins, Metalloendopeptidases, General Medicine, Middle Aged, medicine.disease, Familial partial lipodystrophy, Lamin Type A, Phenotype, 3. Good health, Cell nucleus, medicine.anatomical_structure, embryonic structures, Cancer research, Female, Lamin
Abstract

Constitutional laminopathies, such as the Dunnigan familial partial lipodystrophy, are severe diseases caused by mutations in A-type lamins and share several features with metabolic syndrome (MS). In this study, we hypothesized that MS may be, in some cases, a mild form of laminopathies and use the abnormal cell nucleus phenotype observed in these diseases as a primary screening test in patients suffering from common MS. Nuclear shape and lamin A nucleoplasmic distribution abnormalities were systematically searched in lymphoblastoid cells of 87 consecutive patients with MS. In parallel, five genes encoding either the A-type lamins or the enzymes of the lamin A maturation pathway were systematically sequenced (LMNA, ZMPSTE24, ICMT, FNTA and FNTB). We identified 10 MS patients presenting abnormal nuclear shape and disturbed lamin A/C nuclear distribution. These patients were not clinically different from those without nuclear abnormalities except that they were younger, and had higher triglyceridemia and SGPT levels. Three of them carry a heterozygous mutation in LMNA or in ZMPSTE24, a gene encoding one of the lamin A processing enzymes. All three mutations are novel missense mutations predicted to be damaging. Both lymphoblastoid cells and skin fibroblasts from the patient carrying the mutation in ZMPSTE24, showed accumulation of lamin A precursor, indicating an alteration of the lamin A processing, confirmed by functional study. Together, these results show for the first time, that a significant proportion of MS patients exhibits laminopathies and suggest that systematic investigation of lamin A and its partners should be performed at the diagnosis of this syndrome.

Published
2011
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