Proteomic exploration of potential blood biomarkers in haemophilic arthropathy

Scientific paper - Original scientific paper

• Author: Nataša Kalebota
• Author: Ruđer Novak
• Author: Stela Hrkač
• Author: Porin Perić
• Author: Grgur Salai
• Author: Marko Močibob
• Author: Marija Pranjić
• Author: Zbyněk Zdráhal
• Author: Václav Pustka
• Author: Nadica Laktašić Žerjavić
• Author: Milan Milošević
• Author: Marijo Vodanović
• Author: Silva Zupančić Šalek
• Author: Lovorka Grgurević
• Author's institution: University of Zagreb; School of Medicine; (Department of Anatomy and Clinical Anatomy)
• Author's institution: University of Zagreb; School of Medicine; (Department of Physical Medicine and General Rehabilitation)
• Author's institution: University of Zagreb; School of Medicine; (Department of Environmental and Occupational Health)
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Physical Medicine and Rehabilitation
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Public Health and Health Care; Health Ecology
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Basic Medical Sciences; Anatomy

Abstract (english)

Background and aims: The pathophysiology of haemophilic arthropathy (HA) is complex and largely undefined. Proteomic analyses provide insights into the intricate mechanisms of the HA.Our study aimed to identify differentially expressed proteins in relation to the severity of HA, explore their pathophysiological roles, and evaluate their potential as HA biomarkers.

Methods: Our cross-sectional observational study encompassed 30 HA patients and 15 healthy subjects. Plasma samples were pooled into three groups of 15 samples from those with severe haemophilic arthropathy (sHA), mild haemophilic arthropathy (mHA) and healthy controls. Proteomic analysis was performed using liquid chromatography-mass spectrometry. The severity of HA was assessed using the World Federation of Haemophilia Physical Examination Score and ultrasonography following the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) guidelines.

Results: A total of 788 proteins were identified, with 97% of the uniquely identified proteins being expressed in all analysed groups. We identified several up and downregulated proteins across the groups that were mainly related to inflammatory and immunity-modulating processes, as well as joint degeneration. We highlighted ten proteins relevant for the development of HA: cathepsin G, endoplasmic reticulum aminopeptidase 2, S100-A9, insulin-like growth factor I, apolipoprotein (a), osteopontin, pregnancy zone protein, cartilage oligomeric matrix protein, CD44, and cadherin-related family member 2.

Conclusion: Our analysis identified several proteins that shed further light on the distinctive pathogenesis of HA and could serve for biomarker research. However, these results need to be validated on a larger patient group.

• Keywords (english): arthropathy; biomarkers; haemophilia; pathophysiology; proteomics
• Language: english
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Health Science Reports
• Numbering: vol. 7, no. 9, e70046
• p-ISSN: 2398-8835
• e-ISSN: 2398-8835
• DOI: https://doi.org/10.1002/hsr2.70046
• URN:NBN: urn:nbn:hr:105:964902
• Publication: 2024-09-25
• Document URL: https://onlinelibrary.wiley.com/doi/10.1002/hsr2.70046
• Type of resource: Text
• Access conditions: Open access
• Created on: 2025-03-20 08:31:25