Abstract
Background:Primary Osteoarthritis (OA) is a multifactorial disease in which genetic factors are strongly associated with its development; however, recently it has been observed that epigenetic modifications are also involved in the pathogenesis of OA. DNA methylation is related to gene silencing, and several studies have investigated its role in the loci of different pathways or molecules associated to OA.Objective:This review is focused on the current status of DNA methylation studies related to OA pathogenesis.Method:A review of the literature was conducted on searching in PUBMED for original papers on DNA methylation in OA.Conclusion:The DNA methylation research of loci related to OA pathogenesis has shown a correlation between methylation and gene repression; however, there are some exceptions to this rule. Recently, the development of genome-wide methylation and genome-wide hydroxymethylation profiles has demonstrated that several genes previously associated with OA can have changes in their methylation status, favoring the development of the disease, and these have even shown the role of other epigenetic markers.
Highlights
Osteoarthritis (OA) continues to be considered the most common joint disease and a leading cause of musculoskeletal disability worldwide
Aggrecan is an essential component of cartilage Extracellular Matrix (ECM) that is reduced during aging; it is associated with OA development; there are no significant changes in methylation levels at the CpG island of the Aggrecan (ACAN) gene promoter in normal aged or in OA chondrocytes [20]
There is no expression of IL-1β gene (IL1B) in human articular chondrocytes; when these are experimentally exposed to IL-1β and Tumor Necrosis Factor α (TNF-α) there is a loss of DNA methylation at a specific CpG site (-299 bp) in the promoter and IL1B expression increases 100- to 1,000- fold [25]
Summary
Primary Osteoarthritis (OA) is a multifactorial disease in which genetic factors are strongly associated with its development; recently it has been observed that epigenetic modifications are involved in the pathogenesis of OA. DNA methylation is related to gene silencing, and several studies have investigated its role in the loci of different pathways or molecules associated to OA
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
