Abstract
A laboratory-developed test (LDT) is a type of in vitro diagnostic test that is designed, manufactured and used in the same laboratory (i.e., an in-house test). In this study, a metabolomics-based LDT was developed. This test involves a blood plasma preparation, direct-infusion mass spectrometry analysis with a high-resolution mass spectrometer, alignment and normalization of mass peaks using original algorithms, metabolite annotation by a biochemical context-driven algorithm, detection of overrepresented metabolic pathways and results in a visualization in the form of a pathway names cloud. The LDT was applied to detect early stage Parkinson’s disease (PD)—the diagnosis of which currently requires great effort due to the lack of available laboratory tests. In a case–control study (n = 56), the LDT revealed a statistically sound pattern in the PD-relevant pathways. Usage of the LDT for individuals confirmed its ability to reveal this pattern and thus diagnose PD at the early-stage (1–2.5 stages, according to Hoehn and Yahr scale). The detection of this pattern by LDT could diagnose PD with a specificity of 64%, sensitivity of 86% and an accuracy of 75%. Thus, this LDT can be used for further widespread testing.
Highlights
Parkinson’s disease (PD) is the second most common neurodegenerative disease of the central nervous system and primarily affects the elderly
Samples of blood plasma used in this study were taken from a previously published study, where study participants were recruited at the Republican Clinical Diagnostic Centre of Extrapyramidal
The accuracy of diagnosis was 75%, demonstrating that the laboratory-developed test (LDT) is an efficient diagnostic tool for the early diagnosis of PD
Summary
Parkinson’s disease (PD) is the second most common neurodegenerative disease of the central nervous system and primarily affects the elderly. There are several hypotheses for the pathogenesis of PD, including inflammation, improper protein folding, oxidative stress and mitochondrial damage [1,2]. Researchers tend to view PD as a multifactorial disease and that multiple mechanisms may contribute to its pathogenesis. The technologies used in the ‘omics’ sciences, which allow measuring the entire diversity of the molecules of a biologic system in a single-run analysis, may help in this situation (e.g., DNA sequencing in genomics, protein identification technologies in proteomics and profiling of low-molecular-weight substances in metabolomics). Metabolomics has become a promising tool for providing valuable information for disease diagnostics because metabolites directly reflect the physiological and pathological conditions in humans. Metabolomics-based studies of Diagnostics 2020, 10, 332; doi:10.3390/diagnostics10050332 www.mdpi.com/journal/diagnostics
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