混合结合组织疾病作为不同的实体:全球甲基化方面
Gabriela Filipowicz1, Anna Wajda1, Barbara Stypińska1
1Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Spartanska 1, 02-637 Warsaw, Poland.
International journal of molecular sciences
|October 28, 2023
概括
全球DNA低甲基化将混合结合组织疾病 (MCTD) 与系统性硬化症 (SSc) 和系统性红斑狼 (SLE) 区分开来. 然而,全球DNA甲基化水平可能不是区分MCTD与其他自身免疫结缔组织疾病的可靠诊断标记.
科学领域:
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 免疫学 免疫学 免疫学
- 罕见疾病 罕见疾病
背景情况:
- 混合连接组织疾病 (MCTD) 是一种罕见的自身免疫性疾病,其病因不明.
- 基因甲基化是基因表达的关键表观遗传调节剂,越来越多地与自身免疫结缔组织疾病 (ACTD) 有关.
- 之前的研究表明,DNA甲基化变化在系统性硬化症 (SSc) 和系统性红斑狼 (SLE) 等ACTDs的发展中可能发挥作用.
研究的目的:
- 在全血液样本中调查MCTD患者和其他ACTD (SSc,SLE) 之间的全球DNA甲基化差异.
- 探索全球DNA甲基化作为MCTD的显著生物标志物的潜力.
主要方法:
- 该研究包括54名MCTD患者,43名SSc患者,45名SLE患者和43名健康对照 (HC).
- 全球DNA甲基化水平使用酶链接免疫吸收试验 (ELISA) 来量化.
- 进行了统计分析,以比较不同组和SSc亚型内的甲基化水平.
主要成果:
- 全球DNA甲基化在MCTD患者和健康对照人群之间没有显著差异 (p=0.09).
- 与SSc (p≤0.001) 和SLE (p<0.001) 患者相比,在MCTD患者中观察到低甲基化.
- 在SLE和MCTD (p<0.001),SLE和HC (p=0.008),SSc和MCTD (p≤0.001) 以及SSc和HC (p<0.001) 之间发现了全球甲基化显著差异.
- 限定的SSc患者的全球甲基化水平高于分散的SSc患者 (p=0.01).
结论:
- 全球DNA低甲基化可以区分MCTD从SSc和SLE.
- 全球DNA甲基化水平可能不能作为区分MCTD与其他ACTD的确切诊断标记.
- 需要进行进一步的研究,以阐明DNA甲基化在MCTD病变发生中的特定作用及其作为区分因素的潜力.
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