Literature DB >> 24168833

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

Ruei-Cheng Yang1, Ming-Hong Chen2, Pei-Yu Chen3, Ching-Yun Chen4, Shih-Feng Tsai5, Cheng-Kung Cheng6, Jui-Sheng Sun7.   

Abstract

BACKGROUND/
PURPOSE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: The mutant G1170S Col2a1 gene in mice clearly alters the transgenic murine phenotype and cartilage matrix homeostasis.
Copyright © 2013. Published by Elsevier B.V.

Entities:  

Keywords:  Col2a1; cartilage; homeostasis; phenotype; transgenic mice

Mesh:

Substances:

Year:  2013        PMID: 24168833     DOI: 10.1016/j.jfma.2013.09.015

Source DB:  PubMed          Journal:  J Formos Med Assoc        ISSN: 0929-6646            Impact factor:   3.282


  4 in total

1.  Type II collagen-positive progenitors are important stem cells in controlling skeletal development and vascular formation.

Authors:  Xinhua Li; Shuting Yang; Gongsheng Yuan; Dian Jing; Ling Qin; Hu Zhao; Shuying Yang
Journal:  Bone Res       Date:  2022-06-23       Impact factor: 13.362

2.  Analysis of the mechanism by which nerve growth factor promotes callus formation in mice with tibial fracture.

Authors:  Xi-Guang Sang; Zhi-Yong Wang; Lin Cheng; Yan-Hong Liu; Yong-Gang Li; Tao Qin; Kai Di
Journal:  Exp Ther Med       Date:  2017-02-07       Impact factor: 2.447

3.  A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.

Authors:  Na Li; Jian Yu; Xiang Cao; Qiu-Yue Wu; Wei-Wei Li; Tian-Fu Li; Cui Zhang; Ying-Xia Cui; Xiao-Jun Li; Zhi-Min Yin; Xin-Yi Xia
Journal:  PLoS One       Date:  2014-06-20       Impact factor: 3.240

4.  New therapeutic targets in rare genetic skeletal diseases.

Authors:  Michael D Briggs; Peter A Bell; Michael J Wright; Katarzyna A Pirog
Journal:  Expert Opin Orphan Drugs       Date:  2015-09-24       Impact factor: 0.694

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.