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Journal article
Longitudinal Repeatome Remodeling in Peripheral Blood Following Parkinson’s Disease Diagnosis
Genes, Vol.17(5), 577
2026
PMID: 42195038
Abstract
Background/Objectives: Parkinson’s disease (PD) is associated with systemic molecular alterations that extend beyond the central nervous system, including changes in peripheral blood transcriptomic profiles. While prior studies have focused predominantly on coding-gene expression, the longitudinal behavior of the peripheral blood repeatome following clinical diagnosis remains poorly characterized. Here, we investigated temporal remodeling of repetitive-element transcription over 36 months post-diagnosis by integrating repeat subfamily- and locus-specific analyses. Methods: Repeatome expression was quantified using SalmonTE and DESeq2 in peripheral blood RNA-seq data from 1560 PD and control individuals at diagnostic baseline (BL) and four follow-up visits (6, 12, 24, and 36 months). Differential expression was assessed at the subfamily level, with additional locus-specific validation in a representative subset. Results: A total of 259 repeat subfamilies were differentially expressed (padj < 0.05), of which 224 (86.5%) were already detected at baseline. Enrichment of differential expression was significantly higher at baseline than at later visits (odds ratio = 30.9, p < 2.2 × 10−16), with limited additional divergence over time. Longitudinal analyses revealed non-linear trajectories in selected repeat families, including Alu and SVA subfamilies. Locus-specific analysis identified 237 significantly regulated elements, demonstrating heterogeneous, site-specific transcriptional changes, including clusters of differentially expressed loci and instances within PD-relevant genomic regions (e.g., SNCA and IKZF2). Conclusions: Peripheral blood repeatome expression differs between PD and control groups, with the dominant signal established at clinical diagnosis and modest longitudinal modulation thereafter. Integration of locus-level analysis indicates that subfamily level patterns arise from discrete genomic events rather than uniform regulation. These findings support a model of systemic, immune-associated transcriptomic remodeling in circulating blood cells and position the peripheral repeatome as a dynamic framework for biomarker discovery and future mechanistic investigation.
Details
- Title
- Longitudinal Repeatome Remodeling in Peripheral Blood Following Parkinson’s Disease Diagnosis
- Authors/Creators
- Jerzy K. Kulski - The University of Western AustraliaSulev Koks - Murdoch University
- Publication Details
- Genes, Vol.17(5), 577
- Publisher
- MDPI
- Number of pages
- 26
- Grant note
- 092018 / The Perron Institute 032022 / The Multiple Sclerosis Society of Western Australia 18213 / Shake It Up Australia
- Identifiers
- 991005886393107891
- Copyright
- © 2026 by the authors.
- Murdoch Affiliation
- Personalised Medicine Centre
- Language
- English
- Resource Type
- Journal article
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