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The Exon-Based Transcriptomic Analysis of Parkinson's Disease
Journal article   Open access   Peer reviewed

The Exon-Based Transcriptomic Analysis of Parkinson's Disease

Sulev Kõks
Biomolecules (Basel, Switzerland), Vol.15(3), 440
2025
PMID: 40149977
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Published863.17 kBDownloadView
CC BY V4.0 Open Access

Abstract

Aged Biomarkers - metabolism Disease Progression Exons - genetics Female Gene Expression Profiling Humans Male Middle Aged Parkinson Disease - genetics Parkinson Disease - metabolism Transcriptome - genetics
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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Citation topics
1 Clinical & Life Sciences
1.52 Neurodegenerative Diseases
1.52.67 Parkinson's Disease
Web Of Science research areas
Biochemistry & Molecular Biology
ESI research areas
Biology & Biochemistry
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