鉴定hsa_circ_0018905作为一种新的多发性硬化症潜在生物标志物
Valeria Lodde1, Ignazio Roberto Zarbo2,3, Gabriele Farina3
1Department of Biomedical Sciences, University of Sassari, Sassari 07100, Italy.
Cells
|October 15, 2024
概括
循环RNAs (circRNAs) 与多发性硬化症 (MS) 有关. 研究人员在多发性硬化症患者中发现了不同表达的特定circRNAs,其中一个可能作为疾病严重程度的生物标志物.
科学领域:
- 神经免疫学 神经免疫学
- 分子生物学分子生物学
- 基因组学就是基因组学.
背景情况:
- 多发性硬化症 (MS) 是一种由遗传和环境因素影响的自身免疫性脱髓化疾病.
- 免疫系统失调和多发性硬化症中的髓蛋白变化与改变的RNA表达相关,包括非编码RNA.
- 循环RNAs (circRNAs) 越来越多地被认为是它们在MS相关基因失调中的作用.
研究的目的:
- 为了研究新诊断的MS患者外围血液单核细胞 (PBMC) 中的circRNA表达特征.
- 识别差异表达的circRNA并探索它们与MS疾病严重程度的相关性.
主要方法:
- 使用Arraystar人类circRNAs微阵列来分析MS患者和健康对照 (HCs) 的PBMC中的circRNA表达.
- 在一个独立的队列中使用定量逆转录PCR (qRT-PCR) 验证的结果.
- 评估了验证的circRNAs与临床参数 (如残疾程度和疾病进展) 之间的相关性.
主要成果:
- 鉴定了64个差异表达的circRNAs,与HCs相比,在MS患者中有53个下调.
- 验证了七种差异表达的circRNA,包括上调的hsa_circ_0000518 ,hsa_circ_0000517 ,hsa_circ_0000514 ,hsa_circ_0000511和下调的hsa_circ_0018905 ,hsa_circ_0048764 ,hsa_circ_0003445 .
- 发现hsa_circ_0018905的表达减少与更高的残疾和渐进的MS形式相关.
结论:
- 描述了新诊断的MS患者的PBMC中的circRNA表达特征.
- 提议作为多发性硬化症的潜在生物标志物.
- 强调需要进一步研究MS中的circRNA调节机制.
相关概念视频
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...