再生不良性貧血におけるゲノム異常を利用した造血抑制因子の同定

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Author: 中尾, 眞二ほか

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Publication date: 2015-06-04

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Note (General)：: 金沢大学医薬保健研究域医学系再生不良性貧血（再不貧）においてクローン性造血の原因遺伝子を同定するため、多数例の末梢血DNAを次世代シーケンサーで解析した。その結果、全体の40%に何らかのゲノム異常が検出された。頻度の高い変異はDNMT3A、ASXL1などのMDSでしばしば検出される遺伝子変異であった...

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Material Type: 文書・図像類
Title: 再生不良性貧血におけるゲノム異常を利用した造血抑制因子の同定
Author/Editor: 中尾, 眞二
Nakao, Shinji
Author Heading: 中尾, 眞二
Nakao, Shinji
Publication Date: 2015-06-04
Publication Date (W3CDTF): 2015-06-04
Alternative Title: Identification of myelosuppresive cytokines taking advantage of genomic abnormalities of leukocytes in patients with aplastic anemia
Periodical title: 平成26(2014)年度科学研究費補助金基盤研究(B) 研究成果報告書 = 2014 Fiscal Year Final Research Report
No. or year of volume/issue: 2012-04-01 - 2015-03-31
Volume: 2012-04-01 - 2015-03-31
Pages: 4p.-
Text Language Code: jpn
Subject Heading: 再生不良性貧血
クロナリティ
免疫抑制療法
細胞傷害性T細胞
片親性二倍体
Target Audience: 一般
Note (General): 金沢大学医薬保健研究域医学系
再生不良性貧血（再不貧）においてクローン性造血の原因遺伝子を同定するため、多数例の末梢血DNAを次世代シーケンサーで解析した。その結果、全体の40%に何らかのゲノム異常が検出された。頻度の高い変異はDNMT3A、ASXL1などのMDSでしばしば検出される遺伝子変異であった。変異遺伝子のうち、PIGAとBCOR/BCOR1の存在は、免疫抑制療法に対する高反応性と相関していた。一方、第6染色体短腕の片親性二倍体（6pUPD）により、HLA-B*40:02を欠失した血球を持つ再不貧患者のTリンパ球から、HLA-B61拘束性に造血前駆細胞を傷害する細胞傷害性T細胞の分離に成功した。
To determine genomic abnormalities responsible for clonal hematopoiesis in patients with aplastic anemia (AA), we analyzed peripheral blood DNA from 159 patients with aplastic anemia using a next generation sequencer. At least one gene abnormality was detectable in approximately 40% of the patient. Recurrent abnormalities included those of DNMT3 and ASXL1 that were often detected in patients with myelodysplastic syndrome (MDS). However, the presence of PIGA and BCOR/BCOR1 abnormalities were rather associated with good response to immunosuppressive therapy than the risk of evolving into MDS. In another attempt to clarify the immune mechanism of AA, we successfully isolated a cytotoxic T cell clone from an AA patient with uniparental disomy of chromosome 6p, which killed hematopoietic progenitor cells in a resitricted manner by HLA-DRB1*40:02.
研究課題/領域番号:24390243, 研究期間(年度):2012-04-01 - 2015-03-31
DOI: 10.24517/00051104
Access Restrictions: 限定公開
Related Material: https://kaken.nii.ac.jp/search/?qm=70217660
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-24390243/
https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-24390243/24390243seika/
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