Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals

Abstract To identify circRNAs associated with Parkinson’s disease (PD) we leveraged two of the largest publicly available studies with longitudinal clinical and blood transcriptomic data. We performed a cross-sectional study utilizing the last visit of each participant (N = 1848), and a longitudinal...

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Main Authors: Aleksandra Beric, Yichen Sun, Santiago Sanchez, Charissa Martin, Tyler Powell, Ravindra Kumar, Jose Adrian Pardo, Gauri Darekar, Jessie Sanford, Devin Dikec, Bridget Phillips, Juan A. Botia, Carlos Cruchaga, Laura Ibanez
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-024-00839-3
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author Aleksandra Beric
Yichen Sun
Santiago Sanchez
Charissa Martin
Tyler Powell
Ravindra Kumar
Jose Adrian Pardo
Gauri Darekar
Jessie Sanford
Devin Dikec
Bridget Phillips
Juan A. Botia
Carlos Cruchaga
Laura Ibanez
author_facet Aleksandra Beric
Yichen Sun
Santiago Sanchez
Charissa Martin
Tyler Powell
Ravindra Kumar
Jose Adrian Pardo
Gauri Darekar
Jessie Sanford
Devin Dikec
Bridget Phillips
Juan A. Botia
Carlos Cruchaga
Laura Ibanez
author_sort Aleksandra Beric
collection DOAJ
description Abstract To identify circRNAs associated with Parkinson’s disease (PD) we leveraged two of the largest publicly available studies with longitudinal clinical and blood transcriptomic data. We performed a cross-sectional study utilizing the last visit of each participant (N = 1848), and a longitudinal analysis that included 1166 participants with at least two time points. We identified 192 differentially expressed circRNAs, with effects that were sustained during disease, in mutation carriers, and diverse ancestry. The 192 circRNAs were leveraged to distinguish between PD and healthy participants with a ROC AUC of 0.797. Further, 71 circRNAs were sufficient to distinguish between genetic PD (AUC71 = 0.954) and, at-risk participants (AUC71 = 0.929) and healthy controls, supporting that circRNAs have the potential to aid the diagnosis of PD. Finally, we identified five circRNAs highly correlated with symptom severity. Overall, we demonstrated that circRNAs play an important role in PD and can be clinically relevant to improve diagnostic and monitoring.
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spelling doaj-art-006103c44a514c62bbe91c16b7cdf18e2024-11-24T12:16:05ZengNature Portfolionpj Parkinson's Disease2373-80572024-11-0110111410.1038/s41531-024-00839-3Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individualsAleksandra Beric0Yichen Sun1Santiago Sanchez2Charissa Martin3Tyler Powell4Ravindra Kumar5Jose Adrian Pardo6Gauri Darekar7Jessie Sanford8Devin Dikec9Bridget Phillips10Juan A. Botia11Carlos Cruchaga12Laura Ibanez13Department of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartamento de Ingeniería de la Información y las Comunicaciones; Universidad de MurciaDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartamento de Ingeniería de la Información y las Comunicaciones; Universidad de MurciaDepartment of Psychiatry, Washington University in Saint Louis School of MedicineDepartment of Psychiatry, Washington University in Saint Louis School of MedicineAbstract To identify circRNAs associated with Parkinson’s disease (PD) we leveraged two of the largest publicly available studies with longitudinal clinical and blood transcriptomic data. We performed a cross-sectional study utilizing the last visit of each participant (N = 1848), and a longitudinal analysis that included 1166 participants with at least two time points. We identified 192 differentially expressed circRNAs, with effects that were sustained during disease, in mutation carriers, and diverse ancestry. The 192 circRNAs were leveraged to distinguish between PD and healthy participants with a ROC AUC of 0.797. Further, 71 circRNAs were sufficient to distinguish between genetic PD (AUC71 = 0.954) and, at-risk participants (AUC71 = 0.929) and healthy controls, supporting that circRNAs have the potential to aid the diagnosis of PD. Finally, we identified five circRNAs highly correlated with symptom severity. Overall, we demonstrated that circRNAs play an important role in PD and can be clinically relevant to improve diagnostic and monitoring.https://doi.org/10.1038/s41531-024-00839-3
spellingShingle Aleksandra Beric
Yichen Sun
Santiago Sanchez
Charissa Martin
Tyler Powell
Ravindra Kumar
Jose Adrian Pardo
Gauri Darekar
Jessie Sanford
Devin Dikec
Bridget Phillips
Juan A. Botia
Carlos Cruchaga
Laura Ibanez
Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals
npj Parkinson's Disease
title Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals
title_full Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals
title_fullStr Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals
title_full_unstemmed Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals
title_short Circulating blood circular RNA in Parkinson’s Disease; from involvement in pathology to diagnostic tools in at-risk individuals
title_sort circulating blood circular rna in parkinson s disease from involvement in pathology to diagnostic tools in at risk individuals
url https://doi.org/10.1038/s41531-024-00839-3
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