Mitochondrial DNA in Osteoarthritis Disease

Abstract

[Abstract] Osteoarthritis (OA) is the most prevalent chronic joint disease, and we actually know that the activation of maladaptive responses to injury, including pro-inflammatory pathways, leads to the loss of normal joint function characterized by cartilage degradation, bone remodeling, osteophyte formation, and joint inflammation [1]. Recent insights into the epidemiology and impact of OA on patients have clearly established that OA is a severe disease of the whole joint as an organ, with large unmet medical needs.

OA has a complex etiology that comprises the combination of multiple factors, including gender, age, occupation, trauma, body mass index, and genetics. Approximately, between 30 and 65% of the risk of OA is genetically determined [2] with evidence accumulated from different genome-wide association studies (GWAS) [3]. Most of these studies focused on nuclear genetic variants; however, over the last decade, evidence has accumulated for an association between specific mitochondrial DNA (mtDNA) genetic variants, called haplogroups, and different OA-related features, including prevalence, progression, and incidence [4].