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Pilot study: peripheral biomarkers for diagnosing sporadic Parkinson’s disease

  • Movement Disorders - Original Article
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Abstract

The need for an early and differential diagnosis of Parkinson’s disease (PD) is undoubtedly one of the main quests of the century. An early biomarker would enable therapy to begin sooner and would, hopefully, slow or better prevent progression of the disease. We performed transcript profiling via quantitative RT-PCR in RNA originating from peripheral blood samples. The groups were de novo (n = 11) and medicated PD (n = 94) subjects and healthy controls (n = 34), while for negative control Alzheimer’s disease (AD; n = 14) subjects were recruited as an additional neurodegenerative disease. The results were retested on a second recruitment consisting 22 medicated PD subjects versus 33 controls and 12 AD. Twelve transcripts were chosen as candidate genes, according to previous postmortem brain profiling. Multiple analyses resulted in four significant genes: proteasome (prosome, macropain) subunit-alpha type-2 (PSMA2; p = 0.0002, OR = 1.15 95% CI 1.07–1.24), laminin, beta-2 (laminin S) (LAMB2; p = 0.0078, OR = 2.26 95% CI 1.24–4.14), aldehyde dehydrogenase 1 family-member A1 (ALDH1A1; p = 0.016, OR = 1.05 95% CI 1.01–1.1), and histone cluster-1 H3e (HIST1H3E; p = 0.03, OR = 0.975 95% CI 0.953–0.998) differentiating between medicated PD subjects versus controls. Using these four biomarkers for PD diagnosis, we achieved sensitivity and specificity of more than 80%. These biomarkers might be specific for PD diagnosis, since in AD subjects no significant results were observed. In the second validation, three genes (PSMA2, LAMB2 and ALDH1A1) demonstrated high reproducibility. This result supports previous studies of gene expression profiling and may facilitate the development of biomarkers for early diagnosis of PD.

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Acknowledgments

This work was supported by the “Verein zur Durchführung neurowissenschaftliche Tagungen e.V” (2006) and the Hirnliga e.V. (2004). We wish to thank all the patients and the healthy volunteers who took part in this study and contributed to our findings. Special thanks to the study coordinator Monika Humann and the technicians, Miryame Hofmann and Carola Gagel, for their excellent work. All authors report no biomedical, financial, or potential conflicts of interest.

Conflict of interest

All authors have no actual or potential conflicts of interest.

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Authors and Affiliations

  1. Clinical Neurochemistry, National Parkinson Foundation Centre of Excellence Research Laboratories, Neurochemistry Laboratory, Clinic and Policlinic for Psychiatry, Psychosomatic and Psychotherapy, University of Würzburg, Füchsleinstr 15, 97080, Würzburg, Germany

    Edna Grünblatt, Christian P. Jacob & Peter Riederer

  2. Section for Medical Statistics, Medical University of Vienna, Wien, Austria

    Sonja Zehetmayer

  3. Department of Neurology, St. Joseph Hospital, Klinik-Weissensee, Berlin, Germany

    Thomas Müller

  4. Department of Neurology, Deutsche Klinik für Diagnostik, Aukammallee 33, 65191, Wiesbaden, Germany

    Wolfgang H. Jost

  5. Department of Child and Adolescent Psychiatry, University of Zürich, Zurich, Switzerland

    Edna Grünblatt

Authors
  1. Edna Grünblatt
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  2. Sonja Zehetmayer
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  3. Christian P. Jacob
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  4. Thomas Müller
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  5. Wolfgang H. Jost
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  6. Peter Riederer
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Corresponding author

Correspondence to Edna Grünblatt.

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Grünblatt, E., Zehetmayer, S., Jacob, C.P. et al. Pilot study: peripheral biomarkers for diagnosing sporadic Parkinson’s disease. J Neural Transm 117, 1387–1393 (2010). https://doi.org/10.1007/s00702-010-0509-1

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  • DOI: https://doi.org/10.1007/s00702-010-0509-1

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