Kõks Sulev, Rallmann Karin, Muldmaa Mari, Price Jack, Pfaff Abigail L, Taba Pille
Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, WA, Australia.
Perron Institute for Neurological and Translational Science, Perth, WA, Australia.
Exp Biol Med (Maywood). 2025 Jan 8;249:10401. doi: 10.3389/ebm.2024.10401. eCollection 2024.
Blood-based biomarkers for motor neuron disease are needed for better diagnosis, progression prediction, and clinical trial monitoring. We used whole blood-derived total RNA and performed whole transcriptome analysis to compare the gene expression profiles in (motor neurone disease) MND patients to the control subjects. We compared 42 MND patients to 42 aged and sex-matched healthy controls and described the whole transcriptome profile characteristic for MND. In addition to the formal differential analysis, we performed functional annotation of the genomics data and identified the molecular pathways that are differentially regulated in MND patients. We identified 12,972 genes differentially expressed in the blood of MND patients compared to age and sex-matched controls. Functional genomic annotation identified activation of the pathways related to neurodegeneration, RNA transcription, RNA splicing and extracellular matrix reorganisation. Blood-based whole transcriptomic analysis can reliably differentiate MND patients from controls and can provide useful information for the clinical management of the disease and clinical trials.
运动神经元病需要基于血液的生物标志物，以实现更好的诊断、病情进展预测和临床试验监测。我们使用全血来源的总RNA并进行全转录组分析，以比较运动神经元病（MND）患者与对照受试者的基因表达谱。我们将42例MND患者与42例年龄和性别匹配的健康对照进行比较，并描述了MND的全转录组特征。除了正式的差异分析外，我们还对基因组数据进行了功能注释，并确定了在MND患者中差异调节的分子途径。与年龄和性别匹配的对照相比，我们在MND患者的血液中鉴定出12972个差异表达基因。功能基因组注释确定了与神经退行性变、RNA转录、RNA剪接和细胞外基质重组相关的途径的激活。基于血液的全转录组分析可以可靠地将MND患者与对照区分开来，并可为该疾病的临床管理和临床试验提供有用信息。
