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

摘要: Background/Purpose Genomic studies have revealed that there is a significant association between point mutation of the human Col2A1 gene (G1170S) and several hip disorders. The purpose study was to explore phenotype altered cartilage matrix homeostasis transgenic mice carrying this mutated Col2a1 gene. Methods Wild-type were used as control groups, respectively. Body weight measurement, radiographic analysis, histological analysis carried out describe differences wild-type at different ages. Cartilage metabolism also out, including an MTT assay cellular proliferation nitric oxide glycosaminoglycan assays. Allelic expression levels mutant A allele normal G established by TaqMan assay. Cytokine protease measured. Results Transgenic had lower mean body weight, deformed skeletal structure, abnormal histomorphology. Chondrocyte significantly compromised linked higher NO secretion less soluble formation. TNF-α IL-1β upregulated, while MMP-13 downregulated. Conclusion G1170S in clearly alters murine homeostasis.