A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.

ABSTRACT: Osteoarthritis (OA) is a common debilitating disease characterized by abnormal remodeling of the cartilage and bone of the articular joint. Ameliorating therapeutics are lacking due to limited understanding of the molecular pathways affecting disease initiation and progression. Notably, although a link between inflammation and overt OA is well established, the role of inflammation as a driver of disease occurrence is highly disputed. We analyzed a family with dominant inheritance of early-onset OA and found that affected individuals harbored a rare variant allele encoding a significant amino acid change (p.Asn104Asp) in the kinase domain of receptor interacting protein kinase 2 (RIPK2), which transduces signals from activated bacterial peptidoglycan sensors through the NF-κB pathway to gen

SUBMITTER: Jurynec MJ 

PROVIDER: S-EPMC6620756 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature