Danon病iPS細胞由来心筋・骨格筋細胞の解析と治療薬効果の評価

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Author: 吉田, 昌平ほか

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Publication date: 2016-06-10

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Note (General)：: 金沢大学附属病院循環器内科女性Danon病患者からiPS細胞(iPSC)の作製に成功した。しかし、LAMP2蛋白の免疫染色においてDanon病患者全てのiPSCが染色され、LAMP2陽性、陰性のiPSCに対する検討は行えなかった。採取したcDNAに対しLAMP2のPCRを行ったところ、Exon6欠損...

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https://kaken.nii.ac.jp/search/?qm=30623657

https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26860786/

https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26860786/26860786seika/

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Material Type: 文書・図像類
Title: Danon病iPS細胞由来心筋・骨格筋細胞の解析と治療薬効果の評価
Author/Editor: 吉田, 昌平
Yoshida, Syohei
Author Heading: 吉田, 昌平
Yoshida, Syohei
Publication Date: 2016-06-10
Publication Date (W3CDTF): 2016-06-10
Alternative Title: New therapeutic agent for danon disease: reserch from patient specific iPSCs derived cardiomyocytes
Periodical title: 平成27(2015)年度科学研究費補助金若手研究(B) 研究成果報告書 = 2015 Fiscal Year Final Research Report
No. or year of volume/issue: 2014-04-01 - 2018-03-31
Volume: 2014-04-01 - 2018-03-31
Pages: 4p.-
Text Language Code: jpn
Subject Heading: danon病
iPS細胞
Target Audience: 一般
Note (General): 金沢大学附属病院循環器内科
女性Danon病患者からiPS細胞(iPSC)の作製に成功した。しかし、LAMP2蛋白の免疫染色においてDanon病患者全てのiPSCが染色され、LAMP2陽性、陰性のiPSCに対する検討は行えなかった。採取したcDNAに対しLAMP2のPCRを行ったところ、Exon6欠損Line(miPSC)と発現Line(ciPSC)を確認することが出来た。miPSCと、ciPSCにおいてiPSC、iPSC由来心筋様細胞に関して検討を行った。心筋様細胞の透過電子顕微鏡での形態評価では、miPSCでDanon病に特徴的な自己貪食空胞の存在が確認出来た。治療候補薬の投与と評価は行うことができず、期限となった。
We manufactured hiPSCs from female patients of danon disease. Genomic sequencing of iPSCs were performed. We identified a 4-bp deletion in LAMP2 at the intron 6 splice site (IVS6+1_4delGTGA) in all lines of hiPSCs same as their whole blood as previously reported. However, we could not compare the differences between LAMP2 positive and negative iPSCs, because all of the iPSC lines were stained by LAMP2 antibody IF. cDNA sequence of LAMP2 was performed. Exon6 skipping was proved in some of the hiPSC lines (miPSCs) and the other lines(ciPSCs) had normal cDNA sequence of LAMP2.We compared the difference between miPSCs and ciPSCs. The miPSCs derived cardiomyocytes had intracytoplasmic vacuoles which was thought to be autophagosome: the characteristics of danon disease. On the contrary, we could not find any abnormal vacuole in the cytoplasm of ciPSCs. We could not administer and make evaluation of the candidate therapeutic agent because of expiration of the term.
研究課題/領域番号:26860786, 研究期間(年度):2014-04-01 - 2018-03-31
DOI: 10.24517/00050949
Access Restrictions: 限定公開
Related Material: https://kaken.nii.ac.jp/search/?qm=30623657
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-26860786/
https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-26860786/26860786seika/
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): 金沢大学 : 金沢大学学術情報リポジトリKURA