在PRNP codon 129异合体患者输血后的临床前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
概括
克鲁茨菲尔特 - 雅各布病 (vCJD) 的变体在患者被检测到几年后,从一个感染的捐赠者输血. 蛋白在脏中发现,而不是大脑,挑战了以前的vCJD基因型假设.
科学领域:
- 神经学 神经学
- 输血医学 输血医学
- 子疾病是子疾病.
背景情况:
- 变体克鲁茨菲尔特-雅各布病 (vCJD) 是一种致命的神经退行性疾病.
- 通过输血传播vCJD是一个重大的公共卫生问题.
- PRNP codon 129基因型被认为是vCJD易感性的关键因素.
研究的目的:
- 报告一个患有非神经病因死亡的患者死后发现的临床前vCJD病例.
- 为了研究一个vCJD输血接受者病例中子蛋白的分布.
- 评估PRNP基因型在vCJD易感性中的作用.
主要方法:
- 西方斑块和免疫组织化学被用来检测抗蛋白酶的蛋白 (PrP(res)).
- 分析了来自脏,大脑和宫淋巴结的组织样本.
- 进行了PRNP编码子129的基因定型.
主要成果:
- 在脏和宫淋巴结中检测到PrP(res),但在大脑中没有.
- 这位患者是PRNP编码子129异位.
- 这一病例发生在从捐赠者输血5年后,该捐赠者后来患上了vCJD.
结论:
- 在临床前的vCJD中,蛋白可能存在于外围组织 (脏,淋巴结) 中.
- vCJD易感性不仅限于具有甲素同胞性PRNP基因型的个体.
- 这些发现需要修订英国的vCJD监测和风险评估策略.
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