Abstract
Mitochondrial DNA (mtDNA) has been implicated in various human degenerative diseases. However, the role of mtDNA in Osteoarthritis (OA) is less known. To investigate whether mtDNA haplogroups contribute to the prevalence of knee OA, we have carried out a comprehensive case-control study on 187 knee OA patients and 420 geographically matched controls in southern China. OA patients were classified on the Kellgren/Lawrence scale from two to four for the disease severity study and the data were analyzed by adjusting for age and sex. We found that patients with haplogroup G (OR = 3.834; 95% CI 1.139, 12.908; p = 0.03) and T16362C (OR = 1.715; 95% CI 1.174, 2.506; p = 0.005) exhibited an increased risk of OA occurrence. Furthermore, patients carrying haplogroup G had a higher severity progression of knee OA (OR = 10.870; 95% CI 1.307, 90.909; p = 0.007). On the other hand, people with haplogroup B/B4 (OR = 0.503; 95% CI 0.283, 0.893; p = 0.019)/(OR = 0.483; 95% CI 0.245, 0.954; p = 0.036) were less susceptible for OA occurrence. Interestingly, we found OA patients also exhibited a general increase in mtDNA content. Our study indicates that the mtDNA haplogroup plays a role in modulating OA development.
Highlights
Osteoarthritis (OA) is an age related degenerative disease characterized by the degradation of articular cartilage, caused by dysfunctional chondrocytes
For haplogroup G, mtDNA content was lower in haplogroup G patients compared with non-haplogroup G patients (p < 0.001) while there was no difference between haplogroup G and non-haplogroup G in controls (p = 0.424) (Figure 3A,B). These results indicate that haplogroup G was less likely to associate with the upregulation of mitochondrial function by increasing mtDNA copy number than other haplogroups in OA development
187 knee OA patients and 420 controls to investigate whether human mitochondrial genetics influence the susceptibility and development of OA in Chinese populations
Summary
Osteoarthritis (OA) is an age related degenerative disease characterized by the degradation of articular cartilage, caused by dysfunctional chondrocytes. Risk factors for OA include gender, occupation, smoking, as well as nuclear genetic background such as mutations in genes encoding. The chondrocyte is the only cell type in cartilage, and its dysfunction is the main hallmark of OA [4]. OA cells were shown to have decreased expression of respiratory complexes II and III [5]. Inhibition of complex I and IV activity increased mitochondrial related chondrocyte apoptosis [5]. The underlying mechanisms mediating the mitochondrial dysfunction in OA have been suggested as increased chondrocyte oxidative stress and apoptosis, decreased chondrocyte biosynthesis, upregulated chondrocyte inflammation and matrix catabolism, and accelerated cartilage matrix calcification [4]
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