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Proteomic biomarkers in Gaucher disease
  1. Łukasz Pawliński1,
  2. Ewa Tobór1,
  3. Maciej Suski2,
  4. Maria Biela3,
  5. Anna Polus3,
  6. Beata Kieć-Wilk1
  1. 1 Metabolic Diseases and Diabetology Department, Szpital Uniwersytecki w Krakowie, Kraków, małopolskie, Poland
  2. 2 Department of Pharmacology, Jagiellonian University in Krakow Medical College Faculty of Medicine, Krakow, Poland
  3. 3 Department of Clinical Biochemistry, Jagiellonian University in Krakow Medical College Faculty of Medicine, Krakow, Poland
  1. Correspondence to Professor Beata Kieć-Wilk; mbkiec{at}


Aims The research work was conducted to find new biomarkers and potential drug targets in Gaucher disease type 1 (GDt1) by analysing the serum proteins.

Methods This study was an observational, cross-sectional analysis of a group of 12 adult participants: six Gaucher disease (GD) patients and six healthy control. Fasting venous blood underwent proteomics analysis and molecular tests. Over 400 proteins were analysed, and in case of significantly different concentrations between the study and control group, we checked corresponding genes to confirm changes in their expression and consistency with protein alteration.

Results We found 31 proteins that significantly differed in concentration between GDt1 patients and a control group. These were mostly proteins involved in the regulation of the inflammatory processes and haemostasis. The levels of proteins such as alpha-1-acid glycoprotein 2, S100-A8/A9, adenyl cyclase-associated protein 1, haptoglobin or translationally controlled tumour protein related to inflammation process were significantly higher in GD patients than in control group, whereas the levels of some proteins such as heavy constant mu and gamma 4 or complement C3/C4 complex involved in humoral response like immunoglobulins were significantly decreased in GD patients. Alteration in two proteins concentration was confirmed in RNA analysis.

Conclusions The work revealed few new targets for further investigation which may be useful in clinical practice for diagnosis, treatment and monitoring GDt1 patients.

  • biomarkers, tumor
  • inflammation
  • proteins

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  • Handling editor Runjan Chetty.

  • Contributors ŁP, MS, ET, AP and MB performed the research. MS and AP analysed data. BK-W designed the research study and interpreted the data. ŁP and BK-W wrote the paper. All authors contributed to critical revision of the manuscript and approved its publication. BK-W and ŁP are the guarantors of this work.

  • Funding The study was funded by the Jagiellonian University Scientific Grant to BKW (No N41/DBS/000069).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Ethics approval All procedures performed in this study, involving human participants, were in accordance with the ethical standards of the Jagiellonian University Bioethical Committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement Data are available upon request.