ミヤノ　ケイ   Kei Miyano   宮野　佳    所属   川崎医科大学  医学部 一般教養　自然科学    職種   講師
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Characterization of missense mutations in the NADPH oxidase partner p22phox in the A22° subtype of chronic granulomatous disease.
掲載誌名	正式名：Microbiology and immunology
掲載区分	国外
出版社	Wiley
巻・号・頁	67(4),pp.194-200
著者・共著者	Kawai, C., Kajikawa, M., Yamauchi, A., Okamoto, S., Kuribayashi, F., & Miyano, K.
担当区分	最終著者,責任著者
発行年月	2023/01/06
概要	Defective superoxide production by NADPH oxidase 2 (Nox2) in phagocyte cells results in the development of chronic granulomatous disease (CGD), a hereditary disease characterized by recurrent and life-threatening infections. The partner protein p22phox is a membrane-spanning protein which forms a stable heterodimer with Nox2 in the endoplasmic reticulum. This interaction ensures the stability of each protein and their accurate trafficking to the cell membrane. The present paper describes the characterization of p22phox missense mutations that were identified in a patient with CGD who presented with undetectable levels of p22phox . Using a reconstitution system, it was found that p22phox expression decreased when R90Q, A117E, S118R, A124S, A124V, A125T, or E129K mutations were introduced, suggesting that these mutations destabilize the protein. In contrast, introducing an L105R mutation did not affect protein expression, but did inhibit p22phox binding to Nox2. Thus, the missense mutations discussed here contribute to the development of CGD by either disrupting protein stability or by impairing the interaction between p22phox and Nox2.
DOI	10.1111/1348-0421.13051
PMID	36606663
researchmap用URL	https://onlinelibrary.wiley.com/doi/10.1111/1348-0421.13051