Understanding the pathophysiology of NOMID arthropathy for drug discovery by iPSCs technology

DOI IR (HANDLE) HANDLE Open Access

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Description

NOMID, also known as CINCA syndrome, is a dominantly inherited autoinflammatory disease caused by NLRP3 mutations. The pathophysiology of NOMID is explained by gain of function mutation of NLRP3, which activates NLRP3 inflammasome and produce an excess of IL-1β. This mechanism is supported by clinical observation that anti-IL-1 therapy is effective on its systemic inflammation. However, one of its characteristic features, epiphyseal overgrowth, is considered to be resistant to anti-IL-1 therapy, which raises a question that other mechanism than NLRP3 inflammasome may play a role in the epiphyseal overgrowth. In this study, we investigated the effect of mutated NLRP3 on chondrocytes using induced pluripotent stem cells (iPSCs) derived from NOMID patients, and tried to identify drugs to treat the abnormal chondrocytes overgrowth.

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Details 詳細情報について

  • CRID
    1050845760762766720
  • NII Article ID
    120005749968
  • ISSN
    15460096
  • DOI
    10.1186/1546-0096-13-s1-p195
  • HANDLE
    2433/210424
  • Text Lang
    en
  • Article Type
    journal article
  • Data Source
    • IRDB
    • CiNii Articles
    • OpenAIRE

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