Is there a mitochondrial DNA haplogroup connection between osteoarthritis and elite athletes? A narrative review

Abstract

Elite athletes are at greater risk of joint injuries linked to the subsequent risk of developing osteoarthritis (OA). Genetic factors such as mitochondrial (mt) DNA haplogroups have been associated with the incidence/progression of OA and athletic performance. This review highlights an area not yet addressed: is there a common pattern in the mtDNA haplogroups for OA occurrence in individuals and elite athletes of populations of the same descent? Haplotypes J and T confer a decreased risk of OA in Caucasian/European descent, while H and U increase this risk. Both J and T haplogroups are under-represented in Caucasian/European individuals and endurance athletes with OA, but power athletes showed a greater percentage of the J haplogroup. Caucasian/European endurance athletes had a higher percentage of haplogroup H, which is associated with increased athletic performance. In a Chinese population, haplogroup G appears to increase OA susceptibility and is over-represented in Japanese endurance athletes. In contrast, in Koreans, haplogroup B had a higher frequency of individuals with OA but was under-represented in the endurance athlete population. For Caucasian endurance athletes, it would be interesting to evaluate if those carrying haplotype H would be at an increased risk of accelerated OA, as well as the haplogroup G in Chinese and Japanese endurance athletes. The reverse might be studied for the Korean descent for haplogroup B. Knowledge of such genetic data could be used as a preliminary diagnosis to identify individuals at high risk of OA, adding prognostic information and assisting in personalising the early management of both populations.

Bibliometric insights from publications on subchondral bone research in osteoarthritis

“…His team has been working on a series of studies on the pathogenesis, risk factors, biomarkers, and treatment of OA. In a recent study, they identified single nucleotide polymorphism genes and mitochondrial DNA haplogroups as biomarkers for early prediction of the progression of knee OA through machine learning ( Bonakdari et al, 2022 ; Martel-Pelletier and Pelletier, 2022 ). Highly cited literature can be considered the most valuable and influential research in the field, so new researchers can read these papers before further research ( Table 5 ; Figure 4 ).…”

The Role of AIM2 Inflammasome in Knee Osteoarthritis

“…40 In KOA, in vitro studies have demonstrated the presence of mitochondrial dysfunction in chondrocytes due to mtDNA mutations, which may affect several pathways related to cartilage degradation. [41][42][43] In addition, mtDNA can also be involved in the activation of AIM2 inflammasome. 44 While mitochondria generate ATP to meet the energy needs of the body, they also generate reactive oxygen species (ROS) radicals to damage themselves.…”