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  1. ホーム
  3. 肺動脈高血圧における新型変異とtet2の表情低下
  1. ホーム
  3. 肺動脈高血圧における新型変異とtet2の表情低下

関連する実験動画

Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase
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Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase

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肺動脈高血圧における新型変異とTET2の表情低下

François Potus1, Michael W Pauciulo2, Elina K Cook3

  • 1Department of Medicine (F.P., L.T., J.M., C.L.D., B.S., A.Y.M., S.L.A.), Queen's University, Kingston, Ontario, Canada.

Circulation
|March 21, 2020

PubMed で要約を見る

まとめ
この要約は機械生成です。

TET2遺伝子の変異は肺動脈高血圧 (PAH) と関連しており,致命的な血管病です. TET2発現の低下はPAHのバイオマーカーとして機能し,新しい診断の機会を提供します.

キーワード:
CREST症候群DNAメチル化結合組織疾患エピジェネティクス肺動脈高血圧スクレロダーマ 限定

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10:33

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Published on: October 15, 2018

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Right Ventricular Systolic Pressure Measurements in Combination with Harvest of Lung and Immune Tissue Samples in Mice
10:20

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科学分野:

  • 遺伝学とゲノミクス
  • 心血管研究
  • エピジェネティクス

背景:

  • 肺動脈高血圧 (PAH) は,遺伝的な説明が限られた重度の血管疾患である.
  • Epigenetic dysregulation,特にDNAメチレーションの変化は,PAHの病原性に関与しています.
  • Tet-methylcytosine-dioxygenase-2 (TET2) はDNA脱甲基化に不可欠であり,その体内の変異は心血管疾患に関連しているが,PAHにおけるその役割は不明である.

研究 の 目的:

  • 肺動脈高血圧 (PAH) の発生における TET2 遺伝子変異および発現の潜在的な役割を調査する.
  • PAH患者におけるTET2変異の頻度と臨床的影響を決定する.
  • マウスモデルを用いてTET2欠乏症とPAHの因果関係を調査する.

主な方法:

  • 2572人のPAH患者と対照群を対象に,遺伝子特異的関連検査を用いて,希少なTET2変異を分析した.
  • TET2発現レベルは,140人のPAH患者からの独立したコホートから外周血液単核細胞で定量化されました.
  • TET2のPAH発現における因果的役割を評価するために,血動力学および組織学的な評価を含む,TET2ノックアウトのマウスを使用した.

主要な成果:

  • 欧州のPAH患者では,対照群と比較して,希少で有害なTET2生殖系変異の増加が観察された (RR=6,P=0,00067).
  • TET2変異 (細菌系と体系) は,全体的なPAHコホートのうち0. 39%で特定され,高齢化,血管拡張剤への反応不良,肺血管抵抗性の低下,および炎症の増加と関連していました.
  • Tet2ノックアウトのマウスは,有害な血管再構成と炎症を伴うPAHを自発的に発症し,IL- 1β阻害療法で逆戻りした.

    • 結論:

    • この研究は,潜在的 TET2 ゲルムライン変異に関連した最初のヒト疾患として PAH を特定しました.
    • TET2の異常は,遺伝的および獲得的の両方で,PAH症例の0. 39%に存在します.
    • TET2発現の減少はPAH患者でよく見られ,診断用バイオマーカーとして潜在的であることが示されています.