Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on Protein and Stability, and Review of the Literature.

The role of genetics in the development of osteoarthritis is well established but the molecular bases are not fully understood. Here, we describe a family carrying a germline mutation in () associated with three distinct phenotypes. The index case was enrolled for a familial form of idiopathic early-onset osteoarthritis.

EZH2 inhibition reduces cartilage loss and functional impairment related to osteoarthritis.

Histone methyltransferase EZH2 is upregulated during osteoarthritis (OA), which is the most widespread rheumatic disease worldwide, and a leading cause of disability. This study aimed to assess the impact of EZH2 inhibition on cartilage degradation, inflammation and functional disability. In vitro, gain and loss of EZH2 function were performed in human articular OA chondrocytes stimulated with IL-1β.

Development of a simple osteoarthritis model useful to predict in vitro the anti-hypertrophic action of drugs.

Osteoarthritis (OA) is characterized by cartilage degradation, inflammation, and hypertrophy. Therapies are mainly symptomatic and aim to manage pain. Consequently, medical community is waiting for new treatments able to reduce OA process.