患者由来iPS細胞を用いたEYA4遺伝子変異難聴の病態の解明

Material type: 文書・図像類

Author: 松崎, 佐栄子

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Publication date: 2021

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Note (General)：: type:textEYA4遺伝子変異患者4症例および健常者の血液検体からiPS細胞を樹立し、内耳細胞へ誘導して、EYA4タンパク発現を症例ごとに検討したところ、健常者由来の内耳細胞では核にのみEYA4の発現が見られたのに対し、患者由来内耳細胞においては細胞質においてもEYA4の発現が高率で見られた。...

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科研費研究者番号 : 70573400

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Material Type: 文書・図像類
Title: 患者由来iPS細胞を用いたEYA4遺伝子変異難聴の病態の解明
Author/Editor: 松崎, 佐栄子
Author Heading: 松崎, 佐栄子
Publication Date: 2021
Publication Date (W3CDTF): 2021
Alternative Title: カンジャユライ iPS サイボウオモチイタ EYA4 イデンシヘンイナンチョウノビョウタイノカイメイ
Kanja yurai iPS saibō o mochiita EYA4 idenshi hen'i nanchō no byōtai no kaimei
Elucidation of the pathophysiology of EYA4 gene mutation hearing loss using patient-derived iPS cells
Periodical title: 科学研究費補助金研究成果報告書
Text Language Code: jpn
eng
Subject Heading: EYA4遺伝子,遺伝性難聴,常染色体優性遺伝,進行性感音難聴
Target Audience: 一般
Note (General): type:text
EYA4遺伝子変異患者4症例および健常者の血液検体からiPS細胞を樹立し、内耳細胞へ誘導して、EYA4タンパク発現を症例ごとに検討したところ、健常者由来の内耳細胞では核にのみEYA4の発現が見られたのに対し、患者由来内耳細胞においては細胞質においてもEYA4の発現が高率で見られた。また、核におけるEYA4の発現も健常者由来内耳細胞よりも強い傾向を認め、この傾向は実際の患者の難聴の程度と正の相関を示していた。また各種のストレス物質を内耳細胞の培養上清に添加することで細胞ストレスを与え、細胞の生存率について検討を行い、特に酸化ストレスに対する脆弱性を認めた。 We derived iPS cells from blood samples of 4 cases of EYA4 gene mutation patients and healthy subjects and induced into inner ear cells. The differences of EYA4 protein expression in each case were examined. EYA4 protein expression was observed at a high rate in the cytoplasm of patient-derived inner ear cells, and EYA4 expression in the nucleus also tended to be stronger than that of healthy human-derived inner ear cells. This tendency became stronger as the degree of deafness in the actual patient was heavier. In addition, various stress substances were added to the culture supernatant of inner ear cells to give cell stress, and the survival rate of the cells was examined, and the vulnerability to oxidative stress was particularly confirmed.
研究種目 : 若手研究研究期間 : 2019～2021 課題番号 : 19K18816 研究分野 : 耳鼻咽喉科学
Access Restrictions: 限定公開
Related Material: 科研費研究者番号 : 70573400
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 慶應義塾大学 : 慶應義塾大学学術情報リポジトリ