Parkinson Hastalığının Ekson Bazlı Transcriptomik Analizi.

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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 OPN1MW3 gene that is related to colour vision, which suggests that colour vision analysis could be a practical biomarker to monitor the progression of PD.

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