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基于剪接的生物标志物定义了一个强大的多基因分类器,用于复发性复发性多发性硬化症

Federica Airi^1,2, Valeria Rimoldi^1,2, Elvezia Maria Paraboschi^1,2

¹Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, 20072, Milan, Italy.

Journal of translational autoimmunity

|September 22, 2025

概括

使用替代拼接 (AS) 的新型分类器有效地将复发性复发性多发性硬化症 (RRMS) 患者与健康人区分开来. 这种MS-Splicing Score (MS-SS) 显示出作为RRMS的诊断生物标志物具有前途.

科学领域:

神经免疫学神经免疫学
分子生物学分子生物学
生物标志物发现发现

背景情况:

替代拼接 (AS) 在多发性硬化症 (MS) 的发病过程中起着至关重要的作用.
对复发性复发性多发性硬化症 (RRMS) 开发准确的诊断工具对于及时干预至关重要.

研究的目的:

开发和验证一种多变量分类器,即MS-Splicing Score (MS-SS),用于区分RRMS患者与健康对照.
探索AS事件作为神经免疫学中的生物标志物的潜力.

主要方法:

根据功能和文献证据,选择了三个关键的AS事件 (IFNAR2,NFAT5,PRKCA).
使用光竞争性RT-PCR在两个独立队列 (意大利和美国) 外围血液RNA中的量化AS异型.
使用后勤回归开发了MS-SS,并通过ROC分析和基于PCA的改进验证了其性能.

主要成果:

MS-SS显著区分了RRMS患者与两个独立队列中的对照 (AUC从0.71到0.77).
在聚合数据集中,MS-SS仍然是一个显著的差异化指标 (AUC=0.72),PCA精细化提高了准确性,AUC为0.87.
该分类器在最佳切线时实现了80%的灵敏度和86%的特异性,通过逻辑学习机器算法识别可解释的值.

结论:

引入了一种基于AS的新且强大的分类器 (MS-SS) 用于RRMS诊断.
提出了一项在神经免疫学中开发基于转录基因组的生物标志物的战略.
由于样本大小的限制,需要进行更大的验证研究来确认MS-SS的临床实用性.

关键词:

另一个替代拼接.生物标志物生物标志物多发性硬化症是多发性硬化症.周围血液周围血液拼接分数的分数是什么

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相关概念视频

RNA Splicing

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...