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自閉症におけるミトコンドリア機能障害

Cecilia Giulivi1, Yi-Fan Zhang, Alicja Omanska-Klusek

  • 1University of California, School of Veterinary Medicine, Department of Molecular Biosciences, One Shields Avenue, 1120 Haring Hall, Davis, CA 95616, USA. cgiulivi@ucdavis.edu

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|December 2, 2010
PubMed
まとめ
この要約は機械生成です。

自閉症の子供は,より低いエネルギー生産と異常なミトコンドリアDNA (mtDNA) を含むミトコンドリア機能障害を示します. この探索的研究は,これらの細胞欠陥と幼児の自閉症との関連性を示唆しています.

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科学分野:

  • バイオケミストリー バイオケミストリー
  • 遺伝学 遺伝学とは
  • 神経科学は神経科学である.

背景:

  • ミトコンドリア機能障害は,神経発達のようなエネルギー集約的なプロセスに影響を与え,潜在的に自閉症に寄与する可能性があります.
  • 以前の研究では,自閉症の子供におけるミトコンドリア機能障害とミトコンドリアDNA (mtDNA) の異常について,広範に研究されていない.

研究 の 目的:

  • 自閉症スペクトル障害と診断された子供のミトコンドリアの欠陥を調査するために.
  • 自閉症の幼い子供のコホートにおけるミトコンドリア機能とmtDNAの整合性を評価する.

主な方法:

  • 10人の自閉症児と10人の年齢相応の対照群を対象とした観察・ケース・コントロール研究.
  • リンパ球の酸化リンパ酸化能力,mtDNA複製数,mtDNA欠損,過酸化水素生成,血乳酸,およびピルバート濃度の分析.

主要な成果:

  • 自閉症の子どもは,対照群と比較して,NADH酸化酵素の活性とピルベート脱水酸化酵素の活性が著しく低下した.
  • 血のピルバ酸塩濃度の上昇とミトコンドリアの過酸化水素生成の増加は,自閉症の子どもで観察されました.
  • ミトコンドリアDNA (mtDNA) の過剰複製は,自閉症児の50%で確認され,mtDNAの欠損は20%で確認された.

結論:

  • この探索的研究では,自閉症の子どもはミトコンドリア機能障害に罹患する傾向が高いことが示されています.
  • 発見は,典型的に発達する子供と比較して,自閉症の子供におけるmtDNA過剰複製と削除の可能性が高いことを示唆しています.