Current Challenges Towards the Development of a Blood Test for Parkinson’s Disease
Abstract
:1. Introduction
2. Genetic Risk Factors as Blood Biomarkers for PD
Biomarker | Description | Cohort characteristics | Assay | Diagnostic accuracy | References |
---|---|---|---|---|---|
SNCA | Phosphorylated SNCA was higher in blood of PD compared to HC. | PD: 189 Hoehn and Yahr: 1–2 HC: 91 | ELISA | AUC = 0.72 | [7,8] |
DJ-1 | DJ-1 isoforms were differentially expressed in late-stage PD patients compared to HC. | PD: 75 UPDRS <15: 15 UPDRS (15–30): 30 UPDRS >30: 30 HC: 30 | Western blot | Not reported | [12] |
LRRK2 | Total LRRK2 or phosphorylated isoforms of LRRK2 were not differentially expressed in PD compared to HC. | PD: 33 HC: 27 | Western blot | N/A | [13] |
PTCD2, HSH2D, MYOT, EEF1A1, ICAM4, FRMD8, CTLA-4, PABPC3, FN1, and TRIM21 | A panel of 10 autoantibodies identified PD patients from healthy controls and AD. | PD: 29 Early and late-stage PD HC: 40 AD: 50 | Human protein microarrays | Sensitivity: 93.1% Specificity: 100% | [14] |
25-hydroxy-vitamin D3 | Levels of 25-hydroxy-vitamin D3 were lower in blood of PD patients compared to healthy controls and correlated with disease severity. | PD: 388 Hoehn and Yahr (mean): 2.1 UPDRS (mean): 31.1 HC: 283 | Liquid chromatography/tandem mass spectrometry | N/A | [15] |
Glutathione S-transferase pi (GSTpi) | Levels of GSTpi were lower in blood of PD patients compared to healthy controls. | PD:17 Hoehn and Yahr: 2 HC: 17 | ELISA | Not reported | [17] |
3. RNA Biomarkers for PD Identified by Microarray Gene Profiling
4. Network-Based Biomarkers for PD
Biomarker | Description | Cohort characteristics | Assay | Diagnostic accuracy | References |
---|---|---|---|---|---|
SKP1A, HIP2, ALDH1A1, PSMC4, HSPA8 | A five-gene panel distinguished early-stage and de novo PD individuals from HC. | PD: 92 Hoehn and Yahr (mean): 1.9 HC: 64 AD: 29 | qPCR | Sensitivity: 90.3% Specificity: 89.1% | [23] |
C5ORF4, COPZ1, MACF1, WLS, PRG3, ZNF160, EFTUD2, MAP4K1, MPP1, PKM2, SLC14A1-s, SLC14A1-l, ZNF134 | Thirteen splice variants distinguished PD from HC and APD patients. | PD: 51 Hoehn and Yahr: 2 HC: 21 PSP: 17 MSA: 17 | qPCR | Sensitivity: 90% Specificity: 94% | [27] |
C5ORF4, COPZ1, WLS, PRG3, ZNF160, MACF1, EFTUD2 | Seven splice variants were replicated in the HBS study and distinguished PD from HC. | PD: 50 Hoehn and Yahr (mean): 1.9 HC: 46 | qPCR | Sensitivity: 78% Specificity: 90% | [28] |
APP | APP mRNA distinguished PD patients from HC in two independent cohorts of patients. | PD: 101 Hoehn and Yahr (mean): 1.9 HC: 91 | qPCR | Sensitivity: 80% Specificity: 60% | [41] |
SOD2 | Relative abundance of SOD2 mRNA was upregulated in PD patients compared to HC. | PD: 101 Hoehn and Yahr (mean): 1.9 HC: 91 | qPCR | AUC: 0.69 | [44] |
5. Current Challenges towards a Diagnostic Tool for PD
6. Conclusions
Acknowledgments
Author Contributions
Conflicts of Interest
References
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Santiago, J.A.; Potashkin, J.A. Current Challenges Towards the Development of a Blood Test for Parkinson’s Disease. Diagnostics 2014, 4, 153-164. https://doi.org/10.3390/diagnostics4040153
Santiago JA, Potashkin JA. Current Challenges Towards the Development of a Blood Test for Parkinson’s Disease. Diagnostics. 2014; 4(4):153-164. https://doi.org/10.3390/diagnostics4040153
Chicago/Turabian StyleSantiago, Jose A., and Judith A. Potashkin. 2014. "Current Challenges Towards the Development of a Blood Test for Parkinson’s Disease" Diagnostics 4, no. 4: 153-164. https://doi.org/10.3390/diagnostics4040153