OBJECTIVE: To detect the changes of mitochondrion DNA (mtDNA) sequence in articular chondrocytes of cartilage affected by osteoarthritis and to clarified the pathogenetic mechanism of osteoarthritis. METHODS: We analyzed the mtDNA 4,977 bp deletion mutations of articular chondrocytes in 10 patients with osteoarthritis and 3 normal cartilages using the gap-PCR amplification method. We designed a two round PCR detection method, in which total DNA was isolated from articular chondrocytes as the template of the first round PCR reaction and products from the first round were the template in the second round reaction. RESULTS: The results of the first rounds of PCR reaction showed the mtDNA 524 bp amplified products in the osteoarthritis group and in the corresponding peripheral blood samples were not detected, but the 533 bp products were detected. However,the results of the second round reaction revealed that the 524 bp zones were detected in 2 of the 10 osteoarthritis patients and the corresponding peripheral blood samples were not detected. The 533 bp products were detected in all specimens. The mtDNA 524 bp amplified products in all the normal articular chondrocytes and the corresponding peripheral white blood cells contrast were not detected in both rounds PCR. CONCLUSION This was the first study to evaluate the mtDNA 4799 bp large fragment deletion mutational accumulation between nt8,470 - nt13,447 of articular chondrocytes in osteoarthritic cartilage. Osteoarthritis may be related to mtDNA mutation of articular chondrocytes.
Adult ; Cartilage, Articular ; metabolism ; pathology ; Chondrocytes ; metabolism ; DNA, Mitochondrial ; genetics ; Female ; Gene Deletion ; Humans ; Male ; Middle Aged ; Osteoarthritis ; genetics ; Osteoarthritis, Hip ; genetics ; Osteoarthritis, Knee ; genetics ; Sequence Analysis, DNA

BACKGROUNDOsteoarthritis (OA) is the most common form of human polyarthritis. Many genetic factors have been implicated in OA. It was reported that a polymorphism in the gene of interleukin-6 (IL-6) was associated with OA of knee. The aim of this study was to determine whether functional IL-6 promoter -174G/C (rs1800795) polymorphisms confer susceptibility to knee OA.

METHODSA meta-analysis was conducted on the association between the IL-6 polymorphism and knee OA. Electronic search at PubMed, EMBASE, Weipu database, and Wanfang database was conducted to select studies. Case-control studies containing available genotype frequencies of IL-6 -174G/C were chosen, and odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of this association.

RESULTSA total of seven studies involving 6 464 subjects (knee OA 3 331 and controls 3 133) were considered in this study. The results suggested that the variant genotypes were not associated with knee OA risk in all genetic models (additive model: OR = 1.144, 95% CI 0.934-1.402, P = 0.194; recessive model: OR = 1.113, 95% CI 0.799-1.550, P = 0.526; dominant model: OR = 1.186, 95% CI 0.918-1.531, P = 0.191). A symmetric funnel plot, the Begg's test (P > 0.05), suggested that the data lacked publication bias.

CONCLUSIONSThis meta-analysis does not support the idea that rs1800795 genotype is associated with increased risk of knee OA. However, to draw comprehensive and more reliable conclusions, further prospective studies with larger numbers of participants worldwide are needed to examine the association between rs1800795 polymorphism and knee OA.

Humans ; Interleukin-6 ; genetics ; Osteoarthritis, Knee ; epidemiology ; genetics ; Polymorphism, Genetic ; genetics ; Promoter Regions, Genetic ; genetics

OBJECTIVE: To review the research progress of mitochondrial dynamics mediated by optic atrophy 1 (OPA1) in skeletal system diseases. METHODS: The literatures about OPA1-mediated mitochondrial dynamics in recent years were reviewed, and the bioactive ingredients and drugs for the treatment of skeletal system diseases were summarized, which provided a new idea for the treatment of osteoarthritis. RESULTS: OPA1 is a key factor involved in mitochondrial dynamics and energetics and in maintaining the stability of the mitochondrial genome. Accumulating evidence indicates that OPA1-mediated mitochondrial dynamics plays an important role in the regulation of skeletal system diseases such as osteoarthritis, osteoporosis, and osteosarcoma. CONCLUSION OPA1-mediated mitochondrial dynamics provides an important theoretical basis for the prevention and treatment of skeletal system diseases.
Humans ; GTP Phosphohydrolases/genetics* ; Mitochondrial Dynamics ; Osteoarthritis ; Osteoporosis

Angiotensin converting enzyme (ACE) plays an important role in the physiology of vasculature, blood pressure and inflammation. ACE gene, known to have insertion/deletion (I/D) polymorphism, has been widely investigated in its relation with cardiovascular and neurodegenerative diseases and longevity. ACE gene polymorphism in an inflammation associated osteoarthritis (OA) patients is not known. Here we have investigated ACE gene polymorphism in 142 Korean primary knee OA patients and 135 healthy volunteers to establish any clinical correlates between ACE polymorphism and knee osteoarthritis. Clinical parameters such as disease onset age, Kellgren-Lawrence grade and Lequesne's functional index provided additional analysis of the relationship of ACE polymorphism and clinical features of OA. Early onset OA showed significantly higher allele frequency and carriage rate of I than late onset OA. Radiographically severe and functionally poor OA showed higher carriage rate of I allele than radiographically mild and functionally good OA, respectively. This study first reports ACE gene polymorphism to be a risk factor for early onset, severe form primary knee OA.
Adult ; Aged ; Female ; Human ; Male ; Middle Aged ; Osteoarthritis, Knee/*genetics ; Peptidyl-Dipeptidase A/blood/*genetics ; *Polymorphism (Genetics)

Humans ; Synovial Fluid ; MicroRNAs/genetics* ; Exosomes/genetics* ; Osteoarthritis/genetics* ; Synovial Membrane

OBJECTIVES: Mutation of p53 may play a role in manifestation of rheumatoid arthritis synovium, but several studies on p53 expression in synovial tissues of rheumatoid arthritis showed conflicting results. We investigated the amount and pattern of p53 positive cells in rheumatoid arthritis synovium, in comparison with osteoarthritis synovium, by using immunohistochemistry with two other monoclonal antibodies for p53. METHODS: Synovial tissues from 9 patients with rheumatoid arthritis and 5 patients with osteoarthritis were examined for p53 expression by immunohistochemistry with 2 monoclonal antibodies for p53, DO-1 and DO-7. Histologic features of inflammation were also scored and compared with p53 expression. RESULTS: There was no significant difference between inflammatory scores in both groups. In the synovial tissues of rheumatoid arthritis patients, p53 positive cells were detected in 3 out of 9 samples(33%) and p53 expressions were restricted to inflammatory mononuclear cells, but synovial lining cells, subsynovial fibroblast-like cells and vascular endothelial cells were p53 negative. p53 expressions in osteoarthritis synovial tissues as control were observed in 2 out of 5 samples(40%) and the amount and pattern of p53 positive cells were comparable to those seen in rheumatoid arthritis synovial tissues. There was no demonstrable correlation between the synovial tissues of both groups with respect to inflammation scores and expression of p53 protein. CONCLUSION: Our findings suggest that altered p53 expression may not play a significant role in the manifestation of rheumatoid arthritis synovium. However these data need to be strengthened by increasing the number of samples and molecular biology approaches.
Arthritis, Rheumatoid/metabolism* ; Arthritis, Rheumatoid/genetics ; Comparative Study ; Gene Expression ; Genes, p53 ; Human ; Immunohistochemistry ; Osteoarthritis/metabolism ; Osteoarthritis/genetics ; Protein p53/metabolism* ; Protein p53/genetics ; Synovial Membrane/metabolism

Osteoarthritis is a common joint disease, which seriously affects the patient's health and quality of life. It results in substantial social and economic costs. Etiology and pathogenesis of OA is still not completely clear, but people paid more attention on Cytokines, especially IL-1, which is considered as core factor in the development of OA. In recent years, many clinical trials considered IL-1 as a target treatment for OA. It provided a new treatment method. This article is to overview the mechanism of IL-1 in OA cartilage damage.
Animals ; Disease Progression ; Humans ; Interleukin-1 ; genetics ; immunology ; Osteoarthritis ; genetics ; immunology ; pathology

Osteoarthritis(OA) is a common clinical disease. The incidence of OA increases significantly with age, and the quality of life of patients is seriously affected. In the pathogenesis of OA, cartilage degeneration is the main cause. There are many long non-coding RNA (lncRNA) specifically expressed in osteoarthritis, which is closely related to the occurrence and development of osteoarthritis. Based on the latest research from 2014 to 2019, this paper summarizes the differential expression of lncRNA in osteoarthritis, the mechanism of lncRNA regulating chondrocyte function, and the mechanism of lncRNA regulating cartilage matrix metabolism. The fact that the expression of lncRNA is altered at different stages of OA development indicates that lncRNA can be developed forlife. The biomarkers and therapeutic targets can provide reference for the prevention, treatment and research of osteoarthritis.
Chondrocytes ; Humans ; Osteoarthritis/genetics* ; Quality of Life ; RNA, Long Noncoding/genetics* ; Research

OBJECTIVETo analyze the allele frequencies of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) on chromosome 12 among KBD patients and residents in the KBD and non-KBD areas.

METHODSEDTA-blood samples were collected from 146 unrelated Chinese Han individuals in Shaanxi Province including 57 KBD patients, 48 control subjects living in the Kashing-Beck disease(KBD) area and 48 in the non-KBD area. The DNA samples were extracted and amplified by PCR, and the PCR products were analyzed by ABI 3100 Genetic Analyzer.

RESULTSIn KBD patients, the allele number for the 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S16725 and D12S1613) was 7, 7, 7, 10, 12 and 8, and the genotype number were 13, 12, 9, 17, 19 and 10, respectively; in the residents in KBD area, the allele number was 7, 5, 7, 9, 13 and 9, and the genotype number 12, 10, 12, 19, 16 and 8; in residents in non-KBD area, the allele number was 7, 5, 5, 12, 8 and 9, and the genotype number 17, 16, 8, 22, 14 and 8. There were significant differences in the allele frequencies in the D12S1725 loci between KBD patients and residents living in KBD area (P=0.0119) and the non-KBD area (P=0.0050), but no significant difference in other 5 loci among the 3 groups.

CONCLUSIONKBD patients have significantly different allele distribution patterns in the D12S1725 loci from the control subjects.

Adult ; China ; Chromosomes, Human, Pair 12 ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Microsatellite Repeats ; genetics ; Middle Aged ; Osteoarthritis ; genetics

There is a greater incidence of discoid meniscus in Asian countries than in Western countries, and bilateral discoid menisci are also common. The discoid meniscus may be a congenital anomaly, and genetics or family history may play a role in the development of discoid menisci. Because the histology of discoid meniscus is different from that of normal meniscus, it is prone to tearing. Individuals with a discoid meniscus can be asymptomatic or symptomatic. Asymptomatic discoid menisci do not require treatment. However, operative treatment is necessary if there are symptoms. Total meniscectomy leads to an increased risk of osteoarthritis. Therefore, total meniscectomy is generally reserved for rare unsalvageable cases. Partial meniscectomy (saucerization) with preservation of a stable peripheral rim combined with or without peripheral repair is effective, and good short-, mid-, and long-term clinical results have been reported.
Asian Continental Ancestry Group ; Diagnosis ; Genetics ; Humans ; Incidence ; Knee ; Osteoarthritis ; Tears