错误折叠的α-synuclein在肌缩侧面硬化症:对诊断和治疗的影响
Richard Smith1, Hanna Hovren2, Robert Bowser3
1Center for Neurologic Study, La Jolla, California, USA.
European journal of neurology
|January 25, 2024
概括
在一些肌缩侧面硬化症 (ALS) 患者的脊髓液中检测到有毒的α-synuclein (α-Syn) 种子,这表明它在疾病发病过程中的作用和潜在的诊断影响.
科学领域:
- 神经科学是一个神经科学.
- 蛋白质病变是一种蛋白质病变.
- 神经退行性疾病 神经退行性疾病
背景情况:
- 在体外,α-synuclein (α-Syn) 寡合体可以增强TAR DNA 结合蛋白 43 (TDP-43) 的聚合.
- 与ALS一样,TDP-43蛋白质病变可能受到有毒α-Syn物种的影响.
- 在ALS患者中观察到帕金森特征和勒维体.
研究的目的:
- 为了调查ALS患者大脑脊髓液 (CSF) 中具有种子竞争力的α-Syn的存在.
- 为了确定α-Syn种子是否可以在不同形式的ALS中检测到 (家族性,零星性,瓜马尼亚).
主要方法:
- 使用了经过验证的α-Synuclein种子放大试验 (SAA).
- 分析了来自127名ALS患者和31名对照患者的脊髓液样本.
- 来自患有C9orf72变异ALS和超氧化解突变酶1型ALS的患者的检查样本.
主要成果:
- 在127名ALS患者中有18名的CSF中检测到有毒α-Syn物种.
- 在5名瓜门ALS患者中观察到积极的SAA结果.
- 两个C9orf72变异ALS样本的测试结果呈阳性;在SOD1-ALS受试者或对照中没有发现阳性结果.
结论:
- 一部分ALS患者表现出可检测的自我复制α-Syn,这表明它对病变发生的贡献.
- 在ALS中存在α-Syn种子可能提供新的诊断和治疗途径.
- 需要进一步的研究来了解α-Syn在ALS亚型中的作用.
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