A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis

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Title:	A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis
Authors:	陳靖昀;Yang, Ruei-Cheng;Chen, Ming-Hong;Chen, Pei-Yu;Chen, Ching-Yun;Tsai, Shih-Feng;Cheng, Cheng-Kung;Sun, Jui-Sheng
Contributors:	生醫理工學院生醫科學與工程學系
Keywords:	Alleles;Animals;cartilage;Cartilage - pathology;Cells, Cultured;Chondrocytes - cytology;Col2a1;Collagen Type II - genetics;Cytokines - metabolism;Gene Expression;Homeostasis;Internal Medicine;Male;Matrix Metalloproteinase 13 - metabolism;Mice;Mice, Transgenic;Mutation;Nitric Oxide - metabolism;Phenotype;transgenic mice
Date:	2014-01-01
Issue Date:	2026-04-23 11:14:46 (UTC+8)
Publisher:	Excerpta Medica Asia Ltd.;Singapore: Elsevier B.V
Abstract:	摘要： Genomic studies have revealed that there is a significant association between a point mutation of the human Col2A1 gene (G1170S) and several hip disorders. The purpose of the study was to explore the phenotype and altered cartilage matrix homeostasis of transgenic mice carrying this mutated Col2a1 gene. Wild-type and transgenic mice were used as the control and study groups, respectively. Body weight measurement, radiographic analysis, and histological analysis of the mice were carried out to describe differences between the wild-type and transgenic mice at different ages. Cartilage metabolism studies were also carried out, including an MTT assay of cellular proliferation and nitric oxide and glycosaminoglycan assays. Allelic expression levels of the mutant A allele and the normal G allele were established by TaqMan assay. Cytokine and protease gene expression were measured. Transgenic mice had a lower mean body weight, a deformed skeletal structure, and abnormal cartilage histomorphology. Chondrocyte proliferation was significantly compromised and this was linked to significantly higher NO secretion and less soluble glycosaminoglycan formation. TNF-α and IL-1β gene expression was significantly upregulated, while MMP-13 gene expression was significantly downregulated. The mutant G1170S Col2a1 gene in mice clearly alters the transgenic murine phenotype and cartilage matrix homeostasis. 其他題名： J Formos Med Assoc 出版者： Singapore: Elsevier B.V 出版日期： 2014-11-01 出處： Journal of the Formosan Medical Association, 2014-11, Vol.113 (11), p.803-812 資源來源： Open Access - DOAJ 版權： 2013 版權： Copyright © 2013. Published by Elsevier B.V. 識別號： ISSN: 0929-6646 識別號： ISSN: 1876-0821 識別號： DOI: 10.1016/j.jfma.2013.09.015 識別號： PMID: 24168833
Appears in Collections:	[Department of Biomedical Sciences and Engineering ] journal & Dissertation

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