Specific splice variants are associated with Parkinson's disease

Authors

  • Jose A. Santiago MS,

    1. Department of Cellular and Molecular Pharmacology, The Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, USA
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  • Clemens R. Scherzer MD,

    1. The Neurogenomics Laboratory, Harvard Medical School and Brigham and Women's Hospital, Cambridge, Massachusetts, USA
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  • Harvard Biomarker Study,

  • Judith A. Potashkin PhD

    Corresponding author
    1. Department of Cellular and Molecular Pharmacology, The Chicago Medical School, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, USA
    2. The Neurogenomics Laboratory, Harvard Medical School and Brigham and Women's Hospital, Cambridge, Massachusetts, USA
    • Correspondence to: Dr. Judith A. Potashkin, Department of Cellular and Molecular Pharmacology, The Chicago Medical School, Rosalind Franklin University of Medicine and Science, 3333 Green Bay Rd, North Chicago, IL 60064-3037, USA; judy.potashkin@rosalindfranklin.edu

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  • Funding agencies: U.S. Army Medical Research and Materiel Command (W81XWH-09-0708 and W81XWH-13-1-0025 to J.A.P.); NIH (U01 NS082157 and R01 NS064155 to C.R.S.). The Harvard Biomarker Study is supported by the Harvard NeuroDiscovery Center.

  • Relevant conflicts of interest/financial disclosures: Nothing to report.

  • Full financial disclosures and author roles may be found in the online version of this article.

ABSTRACT

Background

Diagnosis of Parkinson's disease (PD) currently relies on assessment of motor symptoms. Recently, sensitive, specific, and readily available splice variant–specific biomarkers were identified in peripheral blood from participants in the Diagnostic and Prognostic Biomarkers in Parkinson Disease study.

Methods

Here we test for an association between candidate splice variant biomarkers and PD in blood of an independent population of cases and controls nested in the Harvard NeuroDiscovery Center Biomarker Study.

Results

Expression of 7 out of 13 candidate biomarkers was dysregulated in whole cellular blood of patients with PD.

Conclusions

These results support the view that differential expression of a subset of splice-variant markers in blood is associated with PD. Further evaluation in untreated, de novo patients and at-risk subjects is warranted. © 2013 International Parkinson and Movement Disorder Society

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