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Updated: Sep 9, 2025

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新生児の糖尿病は,リセシブなNARS2変異によって引き起こされるCOXPD-24の重要な特徴である

Russell Donis1, Matthew N Wakeling1, Nicola Jeffery1

  • 1Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.

Diabetic medicine : a journal of the British Diabetic Association
|August 31, 2025
PubMed
まとめ

衰退性NARS2変異は,早期発症糖尿病に関連した状態である結合酸化リン酸化欠乏症24 (COXPD24) を引き起こします. この研究では,早期発症の糖尿病患者のNARS2変種をスクリーニングし,有意な関連性を明らかにしました.

キーワード:
NARS2 についてミトコンドリアミトコンドリア疾患ミトコンドリア機能障害単一性糖尿病新生児の糖尿病β-細胞

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