PRNPコドン129のヘテロジゴット患者における輸血後の臨床前のvCJD
Alexander H Peden1, Mark W Head, Diane L Ritchie
1National Creutzfeldt-Jakob Disease Surveillance Unit, Division of Pathology, School of Molecular and Clinical Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.
Lancet (London, England)
|August 11, 2004
まとめ
変異型クレッツフェルト・ヤコブ病 (vCJD) は,感染したドナーの血液を輸血した数年後の患者で検出されました. プリオンタンパク質は脳ではなく臓で発見され,以前のvCJD遺伝子型仮定に異議を唱えました.
科学分野:
- 神経学 神経学とは
- 輸血医学とは
- プリオン病はプリオン病である.
背景:
- 変異型クレッツフェルト・ヤコブ病 (vCJD) は致命的な神経変性疾患である.
- 輸血によるvCJDの伝播は,重要な公衆衛生上の懸念事項である.
- PRNPコドン129の遺伝子型は,vCJDの感受性における重要な要因と考えられています.
研究 の 目的:
- 非神経学的死因を有する患者の死後特定された臨床前vCJDの症例を報告する.
- 輸血を受けたvCJD患者のプリオンタンパク質の分布を調査する.
- vCJDの感受性におけるPRNP遺伝子型の役割を評価する.
主な方法:
- ウェスタン・ブロットと免疫ヒストキミストリーは,プロテアゼ耐性プリオンタンパク質 (PrP(res)) を検出するために使用されました.
- ,脳,頸髄リンパ節からの組織サンプルを分析した.
- PRNPコドン129のゲノタイプ化が行われました.
主要な成果:
- PrP(res) は臓と頸髄リンパ節で検出されたが,脳では検出されなかった.
- 患者はPRNPコドン129ヘテロジゴートでした.
- この症例は,後にvCJDを発症したドナーからの輸血から5年後に発生しました.
結論:
- プリオンタンパク質は,臨床前のvCJDにおいて,周辺組織 (臓,リンパ節) に存在することがあります.
- vCJDの感受性は,メチオニン同胞性PRNP遺伝子型を有する個人に限定されていません.
- これらの発見は,英国のvCJDの監視とリスク評価戦略の見直しを必要としています.
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