Kõks Sulev
Personalised Medicine Centre, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.
Perron Institute for Neurological and Translational Science, Perth, WA 6009, Australia.
Biomolecules. 2025 Mar 19;15(3):440. doi: 10.3390/biom15030440.
Parkinson's disease (PD) is a neurodegenerative disease with a complicated pathophysiology and diagnostics. Blood-based whole transcriptome analysis of the longitudinal PPMI cohort was performed with a focus on the change in the expression of exons to find potential RNA-based biomarkers. At the moment of diagnosis, the expression of exons was very similar in both control and PD patients. The exon-based analysis identified 27 differentially expressed exons in PD patients three years after the diagnosis compared to the health controls. Moreover, thirteen exons were differentially expressed during the three-year progression of the PD. At the same time, control subjects had only minimal changes that can mostly be attributed to being related to aging. Differentially regulated exons we identified in the PD cohort were mostly related to different aspects of the pathophysiology of PD, such as an innate immune response or lysosomal activity. We also observed a decline in the expression of the gene that is related to colour vision, which suggests that colour vision analysis could be a practical biomarker to monitor the progression of PD.
帕金森病（PD）是一种具有复杂病理生理学和诊断方法的神经退行性疾病。我们对纵向推进的PPMI队列进行了基于血液的全转录组分析，重点关注外显子表达的变化，以寻找潜在的基于RNA的生物标志物。在诊断时，对照组和PD患者的外显子表达非常相似。基于外显子的分析发现，与健康对照组相比，PD患者在诊断三年后有27个差异表达的外显子。此外，在PD的三年病程中，有13个外显子差异表达。与此同时，对照组受试者只有极小的变化，这些变化大多可归因于与衰老相关。我们在PD队列中鉴定出的差异调节外显子大多与PD病理生理学的不同方面相关，如先天性免疫反应或溶酶体活性。我们还观察到与色觉相关的基因表达下降，这表明色觉分析可能是监测PD进展的一种实用生物标志物。
