A dystrophic Duchenne mouse model for testing human antisense oligonucleotides.
作者： Marcel Veltrop , Laura van Vliet , Margriet Hulsker , Jill Claassens , Conny Brouwers
DOI: 10.1371/JOURNAL.PONE.0193289
关键词:
摘要: Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disease generally caused by reading frame disrupting mutations in the DMD gene resulting loss of functional dystrophin protein. The can be restored antisense oligonucleotide (AON)-mediated exon skipping, allowing production internally deleted, but partially proteins as found less Becker dystrophy. Due to genetic variation between species, mouse models with murine genes are limited use test and further optimize human specific AONs vivo. To address this we have generated del52hDMD/mdx mouse. This model carries both genes. However, expression abolished due stop mutation 23, while deletion 52. model, like mdx, shows signs muscle on histological level phenotypically mild impairment. Local administration vivo morpholinos induces skipping restoration these mice. Depending number mismatches, occasional Dmd gene, albeit at low levels, could observed. Unlike previous models, enables analysis targeting 51 or 53 RNA protein quality function. Therefore, it will valuable tool for optimizing genome editing approaches DMD.
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Kiichi Arahata, Alan H. Beggs, Eric P. Hoffman, Hideo Sugita, Linda Specht, Corrado Angelini, Louis M. Kunkel, Frederic Shapiro, Judith R. Snyder, Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. American Journal of Human Genetics. ,vol. 49, pp. 54- 67 ,(1991)
Jerry R. Mendell, Michele Lloyd-Puryear, Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy Muscle & Nerve. ,vol. 48, pp. 21- 26 ,(2013) , 10.1002/MUS.23810
Y. Aoki, T. Yokota, T. Nagata, A. Nakamura, J. Tanihata, T. Saito, S. M. R. Duguez, K. Nagaraju, E. P. Hoffman, T. Partridge, S. Takeda, Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery Proceedings of the National Academy of Sciences of the United States of America. ,vol. 109, pp. 13763- 13768 ,(2012) , 10.1073/PNAS.1204638109
Peter A. C. 't Hoen, Emile J. de Meijer, Judith M. Boer, Rolf H. A. M. Vossen, Rolf Turk, Ronald G. H. J. Maatman, Kay E. Davies, Gert-Jan B. van Ommen, Judith C. T. van Deutekom, Johan T. den Dunnen, Generation and characterization of transgenic mice with the full-length human DMD gene. Journal of Biological Chemistry. ,vol. 283, pp. 5899- 5907 ,(2008) , 10.1074/JBC.M709410200
Lan Zhou, Haiyan Lu, Targeting fibrosis in Duchenne muscular dystrophy. Journal of Neuropathology and Experimental Neurology. ,vol. 69, pp. 771- 776 ,(2010) , 10.1097/NEN.0B013E3181E9A34B
Franklin A. Marden, Anne M. Connolly, Marilyn J. Siegel, David A. Rubin, Compositional analysis of muscle in boys with Duchenne muscular dystrophy using MR imaging. Skeletal Radiology. ,vol. 34, pp. 140- 148 ,(2005) , 10.1007/S00256-004-0825-3
Pietro Spitali, Hans Heemskerk, Rolf HAM Vossen, Alessandra Ferlini, Johan T den Dunnen, Peter AC 't Hoen, Annemieke Aartsma-Rus, Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy Laboratory Investigation. ,vol. 90, pp. 1396- 1402 ,(2010) , 10.1038/LABINVEST.2010.98
Catherine L. Bladen, David Salgado, Soledad Monges, Maria E. Foncuberta, Kyriaki Kekou, Konstantina Kosma, Hugh Dawkins, Leanne Lamont, Anna J. Roy, Teodora Chamova, Velina Guergueltcheva, Sophelia Chan, Lawrence Korngut, Craig Campbell, Yi Dai, Jen Wang, Nina Barišić, Petr Brabec, Jaana Lahdetie, Maggie C. Walter, Olivia Schreiber-Katz, Veronika Karcagi, Marta Garami, Venkatarman Viswanathan, Farhad Bayat, Filippo Buccella, En Kimura, Zaïda Koeks, Janneke C. van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Anna Kostera-Pruszczyk, Janusz Zimowski, Rosário Santos, Elena Neagu, Svetlana Artemieva, Vedrana Milic Rasic, Dina Vojinovic, Manuel Posada, Clemens Bloetzer, Pierre-Yves Jeannet, Franziska Joncourt, Jordi Díaz-Manera, Eduard Gallardo, A. Ayşe Karaduman, Haluk Topaloğlu, Rasha El Sherif, Angela Stringer, Andriy V. Shatillo, Ann S. Martin, Holly L. Peay, Matthew I. Bellgard, Jan Kirschner, Kevin M. Flanigan, Volker Straub, Kate Bushby, Jan Verschuuren, Annemieke Aartsma-Rus, Christophe Béroud, Hanns Lochmüller, The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Human Mutation. ,vol. 36, pp. 395- 402 ,(2015) , 10.1002/HUMU.22758
Annemieke Aartsma-Rus, Maaike van Putten, Assessing functional performance in the mdx mouse model. Journal of Visualized Experiments. pp. 51303- ,(2014) , 10.3791/51303
Eiichi Araki, Kenji Nakamura, Kazuki Nakao, Shuhei Kameya, Osamu Kobayashi, Ikuya Nonaka, Takuro Kobayashi, Motoya Katsuki, Targeted Disruption of Exon 52 in the Mouse Dystrophin Gene Induced Muscle Degeneration Similar to That Observed in Duchenne Muscular Dystrophy Biochemical and Biophysical Research Communications. ,vol. 238, pp. 492- 497 ,(1997) , 10.1006/BBRC.1997.7328