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Is the sebum RNA transcriptome analysis technique capable of non-invasively diagnosing Parkinson’s disease?

T. Iseki, Y. Ueda, T. Kuwano, T. Inoue, S. Saiki, N. Hattori (Bunkyo-ku, Japan)

Meeting: 2024 International Congress

Abstract Number: 1219

Keywords: Parkinson’s

Category: Technology

Objective: Our goal was to explore the potential of skin-surface lipid RNA transcriptome analysis as a diagnostic tool for Parkinson’s disease.

Background: Seborrheic dermatitis is a common complication in Parkinson’s disease (PD) patients (J Clin Neurol. 2022). Moreover, a decrease in β-oxidation has been observed in PD patients’ sebum metabolomic analysis (Nature commun. 2021). We have previously identified alterations in oxidative phosphorylation-related RNAs in PD through SSL-RNA transcriptome analysis (Sci. Rep. 2021). However, these analyses were predominantly conducted on male subjects and lacked comparative studies with other related diseases. In this study, we expanded our analysis to include PD, controls, progressive supranuclear palsy (PSP), and multiple system atrophy (MSA) patients.

Method: Our study involved controls, PD, MSA, and PSP patients (104, 99, 29, and 33 cases, respectively). We collected and evaluated SSL-RNA using established techniques. We also quantified serum neurofilament light chain (NfL) levels using the single molecule array and investigated their correlation with SSL-RNA.

Results: When comparing PD patients with healthy subjects, we identified a group of RNAs, primarily oxidative phosphorylation complex V, as differentially expressed genes (DEGs) in PD, corroborating previous findings. Gene ontology analysis using DEGs revealed a significant enrichment of the Parkinson’s disease term (hsa05012) within the PD group when using KEGGs (FDR=2.70×10-4). Comparisons between PD and MSA or PSP also underscored a term enriched in Parkinson’s disease (FDR=1.34×10-8). Utilizing non-linear machine learning to focus on these RNA profile differences, we found that PD and MSA/PSP might be distinguishable (Accuracy=0.788). Some SSL-RNA changes showed a significant correlation with serum NfL.

Conclusion: We reconfirmed the alterations in SSL-RNA in the oxidative phosphorylation pathway in PD. These changes are specific to PD when compared to MSA and PSP, suggesting that SSL-RNA analysis could serve as a valuable non-invasive supplementary tool for diagnosing PD.

References: 1. Tomic S, Kuric I, Kuric TG, et al. Seborrheic Dermatitis Is Related to Motor Symptoms in Parkinson’s Disease. J Clin Neurol 2022;18(6):628-634.
2. Sinclair E, Trivedi DK, Sarkar D, et al. Metabolomics of sebum reveals lipid dysregulation in Parkinson’s disease. Nat Commun
3. Uehara Y, Ueno SI, Amano-Takeshige H, et al. Non-invasive diagnostic tool for Parkinson’s disease by sebum RNA profile with machine learning. Sci Rep 2021;11(1):18550.

To cite this abstract in AMA style:

T. Iseki, Y. Ueda, T. Kuwano, T. Inoue, S. Saiki, N. Hattori. Is the sebum RNA transcriptome analysis technique capable of non-invasively diagnosing Parkinson’s disease? [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/is-the-sebum-rna-transcriptome-analysis-technique-capable-of-non-invasively-diagnosing-parkinsons-disease/. Accessed June 15, 2025.
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