イアトロゲン性クレウツフェルト・ヤコブ病に遺伝的傾向がある
J Collinge1, M S Palmer, A J Dryden
1Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, UK.
Lancet (London, England)
|June 15, 1991
まとめ
クルーツフェルト・ヤコブ病 (CJD) は,ヒト成長ホルモン経由で感染する可能性があります. 遺伝的感受性,特にバリン129同位体遺伝子型は,プリオン感染と散発性CJDのリスクを高めます.
科学分野:
- 神経科学は神経科学である.
- 感染症 感染症は感染症です.
- 遺伝学 遺伝学とは
背景:
- 致命的なスポンジ状脳症であるクレッツフェルト・ヤコブ病 (CJD) は,ヒト由来の下垂体ホルモンを含む医療処置と関連付けられています.
- 感染は,死体下垂体腺から得られた成長ホルモンとゴナドトロピンを通じて発生した.
研究 の 目的:
- 汚染された下垂体ホルモン製剤に曝露した後にCJDを発症した個体における遺伝因子の役割を調査する.
- ホルモン療法に関連したCJD症例における特定のプリオンタンパク質遺伝子 (PRNP) ゲノタイプの罹患率を評価する.
主な方法:
- 汚染されたヒト成長ホルモンまたはゴナドトロピンを受けた患者のプリオンタンパク質遺伝子 (PRNP) 配列の分析.
- PRNP遺伝子のコドン129のメチオニン/バリンポリモルフィズムのためのゲノタイプ化.
主要な成果:
- イギリスで汚染された成長ホルモンに曝された1908人のうち,6人がCJDを発症した.
- これらのCJD症例と1つのゴナドトロピン関連の症例のうち,4例は珍しいホモジゴスバリン129型遺伝子型を有していた.
- この遺伝子型は,プリオン感染に対する潜在的な遺伝的感受性を示している.
結論:
- ヴァリン129同位体遺伝子型は,汚染された下垂体ホルモンに曝露した後に,CJDを発症するリスクの増加と関連しています.
- 遺伝的感受性,特にPRNP 129VV遺伝子型は,散発性CJDの発生に重要な役割を果たす可能性があります.
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