Induced Pluripotent Stem Cells for Primary Ciliary Dyskinesia Modeling and Personalized Medicine.
作者： Joffrey Mianné , Engi Ahmed , Chloé Bourguignon , Mathieu Fieldes , Isabelle Vachier
关键词: Bioinformatics 、 Motile cilium 、 Mucociliary clearance 、 Genetic disorder 、 Personalized medicine 、 Induced pluripotent stem cell 、 Cilium 、 Medicine 、 Respiratory epithelium 、 Primary ciliary dyskinesia
摘要: Primary ciliary dyskinesia (PCD) is a rare and heterogeneous genetic disorder that affects the structure function of motile cilia. In airway epithelium, impaired motion results in reduced or absent mucociliary clearance leads to appearance chronic infection, sinusitis, bronchiectasis. Currently, there no effective treatment for PCD, research limited by lack convenient models study this disease investigate innovative therapies. Furthermore, high heterogeneity PCD genotypes likely hinder development single therapy all patients. The generation patient-derived, induced pluripotent stem cells, their differentiation into as well genome editing technologies, could represent major tools vitro modeling developing personalized Here, we review pathogenesis then discuss how human cells be used model innovative, patient-specific biotherapies.
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Ximena M. Bustamante-Marin, Lawrence E. Ostrowski, Cilia and Mucociliary Clearance Cold Spring Harbor Perspectives in Biology. ,vol. 9, pp. 466- 470 ,(2017) , 10.1101/CSHPERSPECT.A028241
Chava Rosen, Elias Shezen, Anna Aronovich, Yael Zlotnikov Klionsky, Yasmin Yaakov, Miri Assayag, Inbal Eti Biton, Orna Tal, Guy Shakhar, Herzel Ben-Hur, David Shneider, Zvi Vaknin, Oscar Sadan, Shmuel Evron, Enrique Freud, David Shoseyov, Michael Wilschanski, Neville Berkman, Willem E Fibbe, David Hagin, Carmit Hillel-Karniel, Irit Milman Krentsis, Esther Bachar-Lustig, Yair Reisner, Preconditioning allows engraftment of mouse and human embryonic lung cells, enabling lung repair in mice Nature Medicine. ,vol. 21, pp. 869- 879 ,(2015) , 10.1038/NM.3889
Yue Liang Zheng, Some Ethical Concerns About Human Induced Pluripotent Stem Cells Science and Engineering Ethics. ,vol. 22, pp. 1277- 1284 ,(2016) , 10.1007/S11948-015-9693-6
DH Wu, RR Singaraja, Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia. Clinical Genetics. ,vol. 83, pp. 526- 527 ,(2013) , 10.1111/CGE.12127
Ludovic Jeanson, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Philippe Duquesnoy, Guy Montantin, Jacques Cadranel, Harriet Corvol, André Coste, Julie Désir, Anissa Souayah, Esther Kott, Nathalie Collot, Sylvie Tissier, Bruno Louis, Aline Tamalet, Jacques de Blic, Annick Clement, Estelle Escudier, Serge Amselem, Marie Legendre, RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes American Journal of Human Genetics. ,vol. 97, pp. 153- 162 ,(2015) , 10.1016/J.AJHG.2015.05.004
Hubert Journel, Jocelyne Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, André Coste, Annick Clement, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem, Esther Kott, Marie Legendre, Bruno Copin, Jean-François Papon, Florence Dastot-Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, Julie Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. American Journal of Human Genetics. ,vol. 93, pp. 561- 570 ,(2013) , 10.1016/J.AJHG.2013.07.013
Rim Hjeij, Anna Lindstrand, Richard Francis, Maimoona A Zariwala, Xiaoqin Liu, You Li, Rama Damerla, Gerard W Dougherty, Marouan Abouhamed, Heike Olbrich, Niki T Loges, Petra Pennekamp, Erica E Davis, Claudia MB Carvalho, Davut Pehlivan, Claudius Werner, Johanna Raidt, Gabriele Köhler, Karsten Häffner, Miguel Reyes-Mugica, James R Lupski, Margaret W Leigh, Margaret Rosenfeld, Lucy C Morgan, Michael R Knowles, Cecilia W Lo, Nicholas Katsanis, Heymut Omran, None, ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry American Journal of Human Genetics. ,vol. 93, pp. 357- 367 ,(2013) , 10.1016/J.AJHG.2013.06.009
Michael R. Knowles, Lawrence E. Ostrowski, Niki T. Loges, Toby Hurd, Margaret W. Leigh, Lu Huang, Whitney E. Wolf, Johnny L. Carson, Milan J. Hazucha, Weining Yin, Stephanie D. Davis, Sharon D. Dell, Thomas W. Ferkol, Scott D. Sagel, Kenneth N. Olivier, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Julia Wallmeier, Petra Pennekamp, Gerard W. Dougherty, Rim Hjeij, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Moumita Chaki, Katrina A. Diaz, Daniela A. Braun, Jonathan D. Porath, Markus Schueler, György Baktai, Matthias Griese, Emily H. Turner, Alexandra P. Lewis, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Heymut Omran, Maimoona A. Zariwala, Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. American Journal of Human Genetics. ,vol. 93, pp. 711- 720 ,(2013) , 10.1016/J.AJHG.2013.07.025
Victoria H. Castleman, Leila Romio, Rahul Chodhari, Robert A. Hirst, Sandra C.P. de Castro, Keith A. Parker, Patricia Ybot-Gonzalez, Richard D. Emes, Stephen W. Wilson, Colin Wallis, Colin A. Johnson, Rene J. Herrera, Andrew Rutman, Mellisa Dixon, Amelia Shoemark, Andrew Bush, Claire Hogg, R. Mark Gardiner, Orit Reish, Nicholas D.E. Greene, Christopher O'Callaghan, Saul Purton, Eddie M.K. Chung, Hannah M. Mitchison, Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities American Journal of Human Genetics. ,vol. 84, pp. 197- 209 ,(2009) , 10.1016/J.AJHG.2009.01.011
B. Duriez, P. Duquesnoy, E. Escudier, A.-M. Bridoux, D. Escalier, I. Rayet, E. Marcos, A.-M. Vojtek, J.-F. Bercher, S. Amselem, A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 104, pp. 3336- 3341 ,(2007) , 10.1073/PNAS.0611405104