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Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome

Introduction: Down syndrome (DS) is caused by trisomy of human chromosome 21 (HSA21). Motor dysfunction due to hypotonia has limited labour productivity and have significant effects on socio-economic status in DS individuals. Ts1Cje, a mouse model of DS that exhibits muscle weakness was employed, to...

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Main Authors: Cheah, Pike See, Bala, Usman, Ling, King Hwa
Format: Article
Language:English
Published: Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2018
Online Access:http://psasir.upm.edu.my/id/eprint/66137/1/2018080308593902_MJMHS_Aug_2018.pdf
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spelling oai:psasir.upm.edu.my:66137 http://psasir.upm.edu.my/id/eprint/66137/ Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome Cheah, Pike See Bala, Usman Ling, King Hwa Introduction: Down syndrome (DS) is caused by trisomy of human chromosome 21 (HSA21). Motor dysfunction due to hypotonia has limited labour productivity and have significant effects on socio-economic status in DS individuals. Ts1Cje, a mouse model of DS that exhibits muscle weakness was employed, to investigate the expression profile of selected trisomic and disomic genes involved in skeletal muscle structure and function. Methods: Quadriceps and triceps were harvested from the Ts1Cje (C57BL/6) postnatal day 60-70 mice and corresponding wild-type littermates. Total RNA extracted from these tissues was subjected for quantitative expression profiling of three trisomic genes (Itsn1, Synj1 and Rcan1) involved in neurotransmission and six disomic genes (Lamc1, Leprel1, Myl6b, Msn, Pgm5 and Tmod1) essential for maintenance of muscle structure and function. Real-time quantitative PCR method was used for the profiling. Results: Differential gene expression in DS is reflected by 1.5-fold or more increase in the level of expression as predicted by the gene dosage imbalance hypothesis. The analysis showed no significant changes in the expression level of trisomic genes (Itsn1, Synj1 and Rcan1). On contrary, disomic genes, Leprel1 and Pgm5, were upregulated for more than 1.5-fold in DS quadriceps whereas Lamc1, Myl6b and Pgm5 were upregulated for more than 1.5 fold in DS triceps as compared to the wild-type group. Conclusions: Our findings suggest that the dysregulation of Lamc1, Leprel1, Myl6b and Pgm5 genes is associated to muscle weakness seen in Ts1Cje and may play a role in molecular pathogenesis of muscle weakness in DS. Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2018 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/66137/1/2018080308593902_MJMHS_Aug_2018.pdf Cheah, Pike See and Bala, Usman and Ling, King Hwa (2018) Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome. Malaysian Journal of Medicine and Health Sciences, 14 (SP1). pp. 12-19. ISSN 1675-8544; ESSN: 2636-9346 http://www.medic.upm.edu.my/upload/dokumen/2018080308593902_MJMHS_Aug_2018.pdf
institution UPM IR
collection UPM IR
language English
description Introduction: Down syndrome (DS) is caused by trisomy of human chromosome 21 (HSA21). Motor dysfunction due to hypotonia has limited labour productivity and have significant effects on socio-economic status in DS individuals. Ts1Cje, a mouse model of DS that exhibits muscle weakness was employed, to investigate the expression profile of selected trisomic and disomic genes involved in skeletal muscle structure and function. Methods: Quadriceps and triceps were harvested from the Ts1Cje (C57BL/6) postnatal day 60-70 mice and corresponding wild-type littermates. Total RNA extracted from these tissues was subjected for quantitative expression profiling of three trisomic genes (Itsn1, Synj1 and Rcan1) involved in neurotransmission and six disomic genes (Lamc1, Leprel1, Myl6b, Msn, Pgm5 and Tmod1) essential for maintenance of muscle structure and function. Real-time quantitative PCR method was used for the profiling. Results: Differential gene expression in DS is reflected by 1.5-fold or more increase in the level of expression as predicted by the gene dosage imbalance hypothesis. The analysis showed no significant changes in the expression level of trisomic genes (Itsn1, Synj1 and Rcan1). On contrary, disomic genes, Leprel1 and Pgm5, were upregulated for more than 1.5-fold in DS quadriceps whereas Lamc1, Myl6b and Pgm5 were upregulated for more than 1.5 fold in DS triceps as compared to the wild-type group. Conclusions: Our findings suggest that the dysregulation of Lamc1, Leprel1, Myl6b and Pgm5 genes is associated to muscle weakness seen in Ts1Cje and may play a role in molecular pathogenesis of muscle weakness in DS.
format Article
author Cheah, Pike See
Bala, Usman
Ling, King Hwa
spellingShingle Cheah, Pike See
Bala, Usman
Ling, King Hwa
Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome
author_facet Cheah, Pike See
Bala, Usman
Ling, King Hwa
author_sort Cheah, Pike See
title Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome
title_short Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome
title_full Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome
title_fullStr Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome
title_full_unstemmed Expression profiling of genes involved in the development and function of skeletal muscles in Ts1Cje mouse model of down syndrome
title_sort expression profiling of genes involved in the development and function of skeletal muscles in ts1cje mouse model of down syndrome
publisher Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
publishDate 2018
url http://psasir.upm.edu.my/id/eprint/66137/1/2018080308593902_MJMHS_Aug_2018.pdf
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score 12.935284

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