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

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Title: Perturbed metabolic profiles associated with muscle weakness seen in adult Ts1Cje mouse model of Down syndrome
Authors: Lim, Chai Ling Browse this author
Bala, Usman Browse this author
Leong, Melody Pui-Yee Browse this author
Yap, Ivan Kok Seng Browse this author
Stanslas, Johnson Browse this author
Ramasamy, Rajesh Browse this author
Ling, King-Hwa Browse this author
Cheah, Pike-See Browse this author
Keywords: Down syndrome
skeletal muscle
Issue Date: Feb-2019
Publisher: Faculty of Veterinary Medicine, Hokkaido University
Journal Title: Japanese Journal of Veterinary Research
Volume: 67
Issue: 1
Start Page: 111
End Page: 118
Abstract: 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.
Type: bulletin (article)
Appears in Collections:Japanese Journal of Veterinary Research > Volume 67 Number 1

Submitter: 獣医学部図書室

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