外围α-synuclein单个形式是诊断和预后孤立REM睡眠行为障碍的潜在生物标志物
Laura Arnaldo1, Aintzane Urbizu2, Mònica Serradell3
1Department of Pathology, Hospital Universitari and Health Sciences Research Institute Germans Trias i Pujol, Badalona, Spain; Universitat Autònoma de Barcelona, Barcelona, Spain.
Parkinsonism & related disorders
|September 7, 2023
概括
血液中α-synuclein (SNCA) 基因表达的减少是像帕金森病 (PD) 和患有孤立REM睡眠行为障碍 (IRBD) 患者的勒维体痴呆症 (DLB) 等synucleinopathies的早期指标.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 睡眠医学 睡眠医学
背景情况:
- 孤立的REM睡眠行为障碍 (IRBD) 是同核蛋白病变的早期迹象,包括帕金森病 (PD) 和患有莱维体 (DLB) 的痴呆症.
- 异常的α-synuclein (α-synuclein) 聚合和表达是synucleinopathy发展的关键.
- 虽然大脑SNCA转录过度表达,但DLB患者的血液水平下降.
研究的目的:
- 调查血液中SNCA转录水平的降低是否也存在于IRBD患者中.
- 分析不同SNCA异型和GBA在IRBD患者中的表达.
- 检查SNCA单核酸多态 (SNPs) 与SNCA在IRBD中的表达之间的相关性.
主要方法:
- 实时PCR用于确定SNCA异型 (SNCAtv1,SNCAtv2,SNCAtv3,SNCA126) 和GBA的表达.
- 在108名IRBD患者和149名对照中分析了SNCASNP (rs356219,rs2736990) 的基因型分布.
- 表达水平与IRBD持续时间和临床结果相关.
主要成果:
- 在IRBD患者的血液中,所有SNCA转录都减少了;GBA表达保持不变.
- SNCAtv3表达与IRBD持续时间呈反向相关性.
- 特定的SNCA SNP基因型 (rs356219-AA和rs2736990-CC) 与疾病的进展或稳定性有关.
结论:
- 血液中SNCA转录表达的减少是早期IRBD的特征.
- 这些SNCA表达变化发生在Synucleinopathies中运动和认知症状出现之前.
- 血液中SNCA水平可能作为同核蛋白病变的潜在早期生物标志物.
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