Current Issues in Molecular Biology (Sep 2023)

Biomarkers in Systemic Sclerosis: An Overview

  • Giuseppe Di Maggio,
  • Paola Confalonieri,
  • Francesco Salton,
  • Liliana Trotta,
  • Luca Ruggero,
  • Metka Kodric,
  • Pietro Geri,
  • Michael Hughes,
  • Mattia Bellan,
  • Michele Gilio,
  • Selene Lerda,
  • Elisa Baratella,
  • Marco Confalonieri,
  • Lucrezia Mondini,
  • Barbara Ruaro

DOI
https://doi.org/10.3390/cimb45100490
Journal volume & issue
Vol. 45, no. 10
pp. 7775 – 7802

Abstract

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Systemic sclerosis (SSc) is a complex autoimmune disease characterized by significant fibrosis of the skin and internal organs, with the main involvement of the lungs, kidneys, heart, esophagus, and intestines. SSc is also characterized by macro- and microvascular damage with reduced peripheral blood perfusion. Several studies have reported more than 240 pathways and numerous dysregulation proteins, giving insight into how the field of biomarkers in SSc is still extremely complex and evolving. Antinuclear antibodies (ANA) are present in more than 90% of SSc patients, and anti-centromere and anti-topoisomerase I antibodies are considered classic biomarkers with precise clinical features. Recent studies have reported that trans-forming growth factor β (TGF-β) plays a central role in the fibrotic process. In addition, interferon regulatory factor 5 (IRF5), interleukin receptor-associated kinase-1 (IRAK-1), connective tissue growth factor (CTGF), transducer and activator of transcription signal 4 (STAT4), pyrin-containing domain 1 (NLRP1), as well as genetic factors, including DRB1 alleles, are implicated in SSc damage. Several interleukins (e.g., IL-1, IL-6, IL-10, IL-17, IL-22, and IL-35) and chemokines (e.g., CCL 2, 5, 23, and CXC 9, 10, 16) are elevated in SSc. While adiponectin and maresin 1 are reduced in patients with SSc, biomarkers are important in research but will be increasingly so in the diagnosis and therapeutic approach to SSc. This review aims to present and highlight the various biomarker molecules, pathways, and receptors involved in the pathology of SSc.

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