The Exon-Based Transcriptomic Analysis of Parkinson’s Disease

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 mome...

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Published inBiomolecules (Basel, Switzerland) Vol. 15; no. 3; p. 440
Main Author Kõks, Sulev
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 19.03.2025
MDPI
Subjects
Aged
Biomarkers
Color vision
Diagnosis
Disease
Diseases
Enzymes
Exons
Exons - genetics
Female
Gene expression
Gene Expression Profiling
Genes
Genomes
Humans
Immune response
Innate immunity
Kinases
Male
Middle Aged
Movement disorders
Neurodegenerative diseases
Parkinson Disease - genetics
Parkinson's disease
Pathophysiology
PPMI
Proteins
RNA
RNA-seq
Statistical analysis
Transcriptome
Transcriptomes
Transcriptomics
whole transcriptome analysis
whole transcriptome analysis
RNA-seq
exons
transcriptome
PPMI
blood transcriptome
Parkinson’s disease
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ISSN2218-273X
2218-273X
DOI10.3390/biom15030440

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Summary: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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ISSN:2218-273X
2218-273X
DOI:10.3390/biom15030440