01 Oct Parkinson’s Disease: Skin Biopsy May Provide Less Invasive Diagnostic Test

MedicalResearch.com Interview with:

Dr. Wenquan Zou

Wenquan Zou, MD/PhD, Professor
Department of Pathology
Associate Director
National Prion Disease Pathology Surveillance Center
Case Western Reserve University School of Medicine
Cleveland, Ohio 44106

MedicalResearch.com: What is the background for this study?

Response: Parkinson’s disease (PD) is the second most common age-related neurodegenerative disorder. It is characterized by the accumulation of pathologically misfolded α-synuclein (αSynP) aggregates in the brain. Currently, a definite diagnosis relies on the detection of αSynP-containing Lewy bodies in the brain of PD patients. Development of a reliable and sensitive assay for αSynP in easily accessible peripheral tissue specimens is critical for early or differential diagnosis, determination of disease severity, and evaluation of therapeutic efficacy in clinical trials. Previous studies have revealed that the pathologically phosphorylated α-synuclein is detectable with traditional immunohistochemistry (IHC) and immunofluorescence (IF) microscopy but the sensitivity with IHC/IF is highly variable and inconsistent.

Also the prion-like aggregation seeding activity of αSynP is detected in cerebrospinal fluid (CSF) of Parkinson’s disease patients with highly sensitive real-time quaking-induced conversion (RT-QuIC) and protein misfolding cyclic amplification assays (PMCA). But the lumbar puncture to collect CSF is more invasive compared to skin punch biopsy.

MedicalResearch.com: What are the main findings?

Response: The main findings of our study are that the aggregation-seeding activity of misfolded αSynP can be detectable in the autopsy and biopsy skin samples from cadavers or living patients with Parkinson’s disease with high diagnostic sensitivity and specificity, suggesting that skin αSynP-seeding activity could be a novel biomarker for diagnosis of PD.

MedicalResearch.com: What should readers take away from your report?

Response: The take away message from our report is that the disease-specific aggregation-seeding activity of skin αSynP is a novel biomarker for diagnosis of Parkinson’s disease.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: We recommend to conduct further research to validate the findings with large number of subjects and skin samples from different body areas to confirm our findings and to find the best area with the highest sensitivity. Moreover, it should be very important to determine how early the skin αSynP seeding activity can be detected during the disease progression.

MedicalResearch.com: Is there anything else you would like to add?

Response: Developing early and less invasive diagnostics such as our skin-based assays with RT-QuIC or PMCA will be important for evaluation of therapeutic efficacy in clinical trials. 

Citation:

Wang Z, Becker K, Donadio V, et al. Skin α-Synuclein Aggregation Seeding Activity as a Novel Biomarker for Parkinson Disease. JAMA Neurol. Published online September 28, 2020. doi:10.1001/jamaneurol.2020.3311

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Last Updated on October 2, 2020 by Marie Benz MD FAAD