Identifying the role of ASPN and COMP genes in knee osteoarthritis development

Abstract

BackgroundOsteoarthritis (OA) is a common cause of musculoskeletal disability among elders and is characterized by late-onset degeneration of articular cartilage. OA affects various joints, commonly hand, knee, and hip, with clinical features that are unique to each joint. This study was initiated to identify and evaluate the role of the ASPN and COMP genes in the development of knee OA.MethodsA case–control study was carried out involving 500 cases with knee OA (diagnosed by the American College of Rheumatology) and an equal number of healthy controls. Blood was drawn for genomic DNA isolation. PCR-RFLP and TaqMan assay methods were used to identify the SNPs. mRNA and protein expression of genes were carried out in peripheral blood lymphocytes (PBLs) by RT-PCR and Western immunoblotting. The data obtained were analyzed for the statistical significance between control and case groups.ResultsThe variant genotype of ASPN and COMP genes was found to be present at a relatively higher frequency in cases than controls. RT-PCR and immunochemical studies revealed increased mRNA and protein expression of such gene in PBLs isolated from cases of knee OA as compared to healthy control.ConclusionThe allelic alteration in ASPN and COMP genes in knee OA cases points to the role of these genes in the development of knee OA. Further, increased mRNA and protein expression of ASPN and COMP in peripheral blood samples of patients with the disease suggest that expression profile of candidate gene could be used as a biomarker for predicting the development and progression of knee OA.

Osteoarthritis: Prognosis and emerging therapeutic approach for disease management

“…Asporin, a small leucine‐rich proteoglycan of the matrix, was shown to play a role in the pathogenesis of OA. The expression of Asporin was found to be enhanced in OA compared to healthy cartilage (Mishra, Awasthi, Raj, Mishra, & Srivastava, 2019; Xu, Li, Liu, Xu, & Ni, 2015). The mRNA and protein expression profiles of Asporin were increased in peripheral blood samples of OA patients, suggesting that it can be used as a biomarker in diagnosis and also for studying the progression of OA (Mishra et al, 2019).…”

“…The expression of Asporin was found to be enhanced in OA compared to healthy cartilage (Mishra, Awasthi, Raj, Mishra, & Srivastava, 2019; Xu, Li, Liu, Xu, & Ni, 2015). The mRNA and protein expression profiles of Asporin were increased in peripheral blood samples of OA patients, suggesting that it can be used as a biomarker in diagnosis and also for studying the progression of OA (Mishra et al, 2019). In vitro studies demonstrate that Asporin acts as a negative regulator of TGF‐β (Onnerfjord, Khabut, Reinholt, Svensson, & Heinegard, 2012).…”

Total Flavonoids of Rhizoma Drynariae Restore the MMP/TIMP Balance in Models of Osteoarthritis by Inhibiting the Activation of the NF- κ B and PI3K/AKT Pathways

“…The main pathological feature of OA is cartilage destruction, and disequilibrium of cartilage synthesis and degradation appears earlier in the course of the disease than structural changes [ 4 ]. Matrix metalloproteinases (MMPs) are a class of metal ion-dependent endopeptidases that are closely related to cartilage degradation through their ability to break down the extracellular matrix (ECM) [ 5 ].…”

Identification and Functional Annotation of Genes Related to Bone Stability in Laying Hens Using Random Forests

“…The asporin gene ( ASPN ), also known as biglycan ( BGN ), is assumed to regulate chondrogenesis. While the results of Mishra et al [ 63 ] point to a functional role of ASPN in osteoarthritis, other studies reported only a marginal relationship or contradict such an association [ 86 , 87 ]. Given these contradictory results and the fact that the association with ASPN was not significant in our study, we consider ASPN a suggestive candidate that requires further investigation.…”