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Updated: Jul 3, 2025

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

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FARS2欠乏症はミトコンドリア・ホメオスタシスとミトコンドリア・品質管理システムを破壊することで心筋病を引き起こす

Bowen Li1, Fangfang Liu2, Xihui Chen1

  • 1Department of Biochemistry and Molecular Biology, Shaanxi Provincial Key Laboratory of Clinical Genetics (B.L., X.C., T.C., J.Z., Y.L., Y.Y., W.H., M.Z., Y.W.), Air Force Medical University, Xi'an, China.

Circulation
|February 16, 2024
PubMed
まとめ

FARS2 (ミトコンドリアフェニラニル- tRNA合成酶) の遺伝的変異は,多動性心筋病 (HCM) と関連しています. FARS2欠乏症はミトコンドリアの機能を損なっており,心不全を引き起こし,HCMの新たな診断と治療の機会を提供します.

キーワード:
オートファジー心筋病心不全ミトコンドリアの動態ミトコンドリア機能障害フェニララニル-tRNA合成酵素tRNA アミノアシレーション

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