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. 2013 Oct;28(12):1724-7.
doi: 10.1002/mds.25635. Epub 2013 Sep 20.

Specific splice variants are associated with Parkinson's disease

Jose A Santiago  1 , Clemens R Scherzer; Harvard Biomarker Study; Judith A Potashkin
Affiliations

Specific splice variants are associated with Parkinson's disease

Jose A Santiago et al. Mov Disord. 2013 Oct.

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.

Keywords: Parkinson's disease; biomarker; gene expression; neurodegeneration; splicing.

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Figures

Figure 1
Figure 1
A. Relative mRNA expression levels of biomarkers in samples obtained from participants of the HBS study. Expression levels at the enrollment visit are shown. Fold change of each splice variant was calculated using gapdh as a reference gene and expression levels in the HC as a calibrator. P-values (* p=0.01 ** p<0.001, *** p< 0.0001) HC indicates healthy controls and PD indicates patients with Parkinson’s disease. N= 50 PD patients and 46 healthy controls. Error bars represents standard error. B. Network analysis of the biomarkers. Candidate PD biomarkers are shown in bold-faced white circles. Genes associated with diabetes are displayed in yellow. Interaction is shown by color-coded lines (green=genetic, pink=physical, purple=co-expression and orange=predicted)
See this image and copyright information in PMC

References

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