Gene profiling of skeletal muscles of Ts1Cje mouse model for muscle weakness in Down syndrome

Abstract

Event Abstract Back to Event Gene profiling of skeletal muscles of Ts1Cje mouse model for muscle weakness in Down syndrome Melody P. Leong1, Usman Bala2, Rozita Rosli1, 3, Pike See Cheah2, 3 and King-Hwa Ling1, 3* 1 Universiti Putra Malaysia, Department of Biomedical Science, Faculty of Medicine and Health Sciences, Malaysia 2 Universiti Putra Malaysia, Department of Human Anatomy, Faculty of Medicine and Health Sciences, Malaysia 3 Universiti Putra Malaysia, Genetics & Regenerative Medicine Research Centre (GRMRC); Faculty of Medicine and Health Sciences, Malaysia Down Syndrome (DS) is a chromosomal condition characterised by human chromosome 21 (HSA21) with DS critical region located on the chromosome 21q22. Deficit in motor functions throughout development such as muscle weakness, delayed acquisition of postural control and poor balance are among some of the phenotypes linked to DS. Determination of differentially expressed genes (DEGs) potentially contributing to disruption of molecular pathways of the skeletal muscle could help further understanding of how the additional gene dosage may affect muscle development and function in DS. Ts1Cje is a DS mouse model with partial trisomy for a region of MMU16, encompassing a high number of HSA21 orthologous genes. Ts1Cje was also characterized with muscle weakness that is similar to individuals with DS. In this study, the soleus and extensor digitorum longus (EDL) muscles were harvested from both Ts1Cje and disomic control mice. The gene profile of the samples were analysed and compared using Agilent microarray platform and bioinformatics analyses. Results showed a total of 166 DEGs found in soleus muscles with 37 of them located on MMU16 and a total of 262 DEGs found in EDL muscles with 13 of them located on MMU16 (p-value = 0.05, absolute fold change = 1.5). Nine genes found to be differently expressed in both soleus and EDL muscles were further validated with quantitative reverse transcription PCR (RT-qPCR). The genes were Cdk13, Mansc1, Ifnar1, Ifnar2, Donson, Dyrk1a, Runx1, Sod1, and Tmem50b with the later 5 being genes located on the triplicated region of MMU16 in Ts1Cje mice. Results from the microarray analysis were reflected by RT-qPCR where these genes were differentially upregulated in Ts1Cje mice except Cdk13, which was downregulated instead. Further investigation on the role of these genes at the protein level may provide insight on the underlying mechanism responsible for muscle weakness in Ts1Cje. Acknowledgements The study was supported by Malaysian Ministry of Higher Education's Fundamental Research Grant Scheme awarded to P.-S. Cheah (FRGS/1/2015/SKK08/UPM/02/1) and Malaysian Ministry of Science, Technology and Innovation's Sciencefund grant awarded to K.-H. Ling (02-01-04-SF2336). Keywords: Down Syndrome, Gene Expression, skeletal muscle, in vivo, hypotonia Conference: 14th Meeting of the Asian-Pacific Society for Neurochemistry, Kuala Lumpur, Malaysia, 27 Aug - 30 Aug, 2016. Presentation Type: Poster Presentation Session Topic: 14th Meeting of the Asian-Pacific Society for Neurochemistry Citation: Leong MP, Bala U, Rosli R, Cheah P and Ling K (2016). Gene profiling of skeletal muscles of Ts1Cje mouse model for muscle weakness in Down syndrome. Conference Abstract: 14th Meeting of the Asian-Pacific Society for Neurochemistry. doi: 10.3389/conf.fncel.2016.36.00131 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 04 Aug 2016; Published Online: 11 Aug 2016. * Correspondence: Dr. King-Hwa Ling, Universiti Putra Malaysia, Department of Biomedical Science, Faculty of Medicine and Health Sciences, Serdang, Selangor, 43400, Malaysia, lkh@upm.edu.my Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Melody P Leong Usman Bala Rozita Rosli Pike See Cheah King-Hwa Ling Google Melody P Leong Usman Bala Rozita Rosli Pike See Cheah King-Hwa Ling Google Scholar Melody P Leong Usman Bala Rozita Rosli Pike See Cheah King-Hwa Ling PubMed Melody P Leong Usman Bala Rozita Rosli Pike See Cheah King-Hwa Ling Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.