Cover Image

Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome

Down syndrome (DS) is a genetic condition resulting from a partial or full triplication of human chromosome 21. Besides intellectual disability, DS is frequently associated with hypotonia. Ts1Cje, mouse model of DS, displays the muscle weakness characteristic. The metabolic profiles of the skeletal...

Full description

Saved in:
Bibliographic Details
Main Authors: Lim, Chai Ling, Bala, Usman, Leong, Melody Pui Yee, Yap, Ivan Kok Seng, Stanslas, Johnson, Ramasamy, Rajesh, Ling, King-Hwa, Cheah, Pike See
Format: Article
Language:English
Published: Hokkaido University * Graduate School of Veterinary Medicine 2019
Online Access:http://psasir.upm.edu.my/id/eprint/81687/1/Perturbed%20metabolic%20profiles.pdf
Tags: Add Tag
No Tags, Be the first to tag this record!
id oai:psasir.upm.edu.my:81687
record_format eprints
spelling oai:psasir.upm.edu.my:81687 http://psasir.upm.edu.my/id/eprint/81687/ Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome Lim, Chai Ling Bala, Usman Leong, Melody Pui Yee Yap, Ivan Kok Seng Stanslas, Johnson Ramasamy, Rajesh Ling, King-Hwa Cheah, Pike See Down syndrome (DS) is a genetic condition resulting from a partial or full triplication of human chromosome 21. Besides intellectual disability, DS is frequently associated with hypotonia. Ts1Cje, mouse model of DS, displays the muscle weakness characteristic. The metabolic profiles of the skeletal muscle was characterised using 1H nuclear magnetic resonance spectroscopy and multivariate data analysis. Ts1Cje muscle had significantly decreased levels of glutamine, guanidinoacetate, adenosine monophosphate, and histidine, suggesting perturbation of energy, glutamate, and histidine metabolic pathways. Glycine amidinotransferase/arginine glycine amidinotransferase enzyme-linked immunosorbent assay indicated this mitochondrial enzyme was 74% and 50% lower in Ts1Cje kidney and liver than the wildtype respectively. In conclusion, our findings suggest that perturbed metabolite profiles contribute to muscle weakness in Ts1Cje skeletal muscle. Hokkaido University * Graduate School of Veterinary Medicine 2019-02 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/81687/1/Perturbed%20metabolic%20profiles.pdf Lim, Chai Ling and Bala, Usman and Leong, Melody Pui Yee and Yap, Ivan Kok Seng and Stanslas, Johnson and Ramasamy, Rajesh and Ling, King-Hwa and Cheah, Pike See (2019) Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome. Japanese Journal of Veterinary Research, 67 (1). pp. 111-118. ISSN 0047-1917 https://eprints.lib.hokudai.ac.jp/dspace/handle/2115/72749 10.14943/jjvr.67.1.111
institution UPM IR
collection UPM IR
language English
description Down syndrome (DS) is a genetic condition resulting from a partial or full triplication of human chromosome 21. Besides intellectual disability, DS is frequently associated with hypotonia. Ts1Cje, mouse model of DS, displays the muscle weakness characteristic. The metabolic profiles of the skeletal muscle was characterised using 1H nuclear magnetic resonance spectroscopy and multivariate data analysis. Ts1Cje muscle had significantly decreased levels of glutamine, guanidinoacetate, adenosine monophosphate, and histidine, suggesting perturbation of energy, glutamate, and histidine metabolic pathways. Glycine amidinotransferase/arginine glycine amidinotransferase enzyme-linked immunosorbent assay indicated this mitochondrial enzyme was 74% and 50% lower in Ts1Cje kidney and liver than the wildtype respectively. In conclusion, our findings suggest that perturbed metabolite profiles contribute to muscle weakness in Ts1Cje skeletal muscle.
format Article
author Lim, Chai Ling
Bala, Usman
Leong, Melody Pui Yee
Yap, Ivan Kok Seng
Stanslas, Johnson
Ramasamy, Rajesh
Ling, King-Hwa
Cheah, Pike See
spellingShingle Lim, Chai Ling
Bala, Usman
Leong, Melody Pui Yee
Yap, Ivan Kok Seng
Stanslas, Johnson
Ramasamy, Rajesh
Ling, King-Hwa
Cheah, Pike See
Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
author_facet Lim, Chai Ling
Bala, Usman
Leong, Melody Pui Yee
Yap, Ivan Kok Seng
Stanslas, Johnson
Ramasamy, Rajesh
Ling, King-Hwa
Cheah, Pike See
author_sort Lim, Chai Ling
title Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
title_short Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
title_full Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
title_fullStr Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
title_full_unstemmed Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
title_sort perturbed metabolic profiles associated with muscle weakness seen in adult ts1cje mouse model of down syndrome
publisher Hokkaido University * Graduate School of Veterinary Medicine
publishDate 2019
url http://psasir.upm.edu.my/id/eprint/81687/1/Perturbed%20metabolic%20profiles.pdf
_version_ 1782759493737644032
score 12.935284

Similar Items