用Notch3单克隆抗体进行皮肤活检免疫染,用于CADASIL诊断
A Joutel1, P Favrole, P Labauge
1INSERM EPI 99-21, Faculté de Médecine Lariboisière, 10 Avenue de Verdun, 75010, Paris, France. joutel@paris7.jussieu.fr
Lancet (London, England)
|January 5, 2002
概括
通过新的皮肤活检检测,诊断脑内自体主导动脉病变与皮下心脏病发作和白细胞脑病变 (CADASIL) 的情况得到了改善. 这种高度敏感和特定的NOTCH3免疫染色方法为这种小动脉脑疾病提供了可靠的诊断方法.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 大脑自体主导动脉病变与皮下心脏病发作和白细胞大脑病变 (CADASIL) 是一种遗传小动脉大脑疾病.
- 它是由NOTCH3基因的突变引起的,导致血管中蛋白质的异常积累.
研究的目的:
- 评估NOTCH3免疫染在CADASIL皮肤活检样本上的诊断效用.
- 与基因检测相比,确定该方法的灵敏度和特异性.
主要方法:
- 使用特定于NOTCH的单克隆抗体对皮肤活检样本进行免疫染3.
- 结果与对两个患者队列 (追溯和前) 的NOTCH3突变引起的外因子的基因分析进行比较.
主要成果:
- NOTCH3免疫染试验在诊断CADASIL时显示出高灵敏度 (96%) 和特异性 (100%).
- 在前性系列中,皮肤活检发现了更多潜在的CADASIL病例 (7/42),而不是有限的基因扫描 (4/42).
结论:
- 皮肤活检的NOTCH3免疫染色是CADASIL的可靠,敏感和特定的诊断测试.
- 这种方法为诊断CADASIL提供了一种实用的方法,补充了基因检测.
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相关概念视频
03:14Notch Signaling Pathway
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
01:12Role Of Notch Signalling In Intestinal Stem Cell Renewal
Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...