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

西小森, 隆太, 八角, 高裕, 戸口田, 淳也, 平家, 俊男, Tanaka, T., Kawai, T., Yasumi, T., Umeda, K., Nakayama, N., Toguchida, J., Hagiwara, M., Heike, T.

doi:10.1186/1546-0096-13-s1-p195

説明

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.

収録刊行物

Pediatric Rheumatology

Pediatric Rheumatology 13 (Suppl 1), 2015-09-28

BioMed Central Ltd.

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詳細情報詳細情報について

CRID: 1050845760762766720

NII論文ID: 120005749968

ISSN: 15460096

DOI: 10.1186/1546-0096-13-s1-p195

HANDLE: 2433/210424

本文言語コード: en

資料種別: journal article

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