Epigenetic alterations in Sjögren's syndrome patient saliva

Karagianni, Panagiota; Goules, Andreas V.; Tzioufas, Athanasios G.

doi:10.1111/cei.13492

Cited by 7 publications

(6 citation statements)

References 25 publications

(33 reference statements)

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“…Furthermore, a separate study found that the expression of DNA methylation mediators (including DNA methyltransferases 1 and 3B) in the minor salivary glands is higher in patients with pSS than in individuals with non-pSS sicca symptoms, which in turn is positively associated with the expression of LINE-1 retroelements 113 ; this is of interest as LINE-1 retroelements might function as endogenous triggers of immune activation in the context of interferon-driven autoimmune diseases 114 . Notably, dysregulated methylation levels have also been reported in saliva from patients with pSS 115 .…”

Section: Target Tissue Maintenancementioning

confidence: 95%

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

2023

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In primary Sjögren syndrome (pSS), chronic inflammation of exocrine glands results in tissue destruction and sicca symptoms, primarily of the mouth and eyes. Fatigue, arthralgia and myalgia are also common symptoms, whereas extraglandular manifestations that involve the respiratory, nervous and vascular systems occur in a subset of patients. The disease predominantly affects women, with an estimated female to male ratio of 14 to 1. The aetiology of pSS, however, remains incompletely understood, and effective treatment is lacking. Largescale genetic and epigenetic investigations have revealed associations between pSS and genes in both innate and adaptive immune pathways. The genetic variants mediate context-dependent effects, and both sex and environmental factors can influence the outcome. As such, genetic and epigenetic studies can provide insight into the dysregulated molecular mechanisms, which in turn might reveal new therapeutic possibilities. This Review discusses the genetic and epigenetic features that have been robustly connected with pSS, putting them into the context of cellular function, carrier sex and environmental challenges. In all, the observations point to several novel opportunities for early detection, treatment development and the pathway towards personalized medicine. Key points• Advances in the past few years provide new insight into the genetic and epigenetic basis of primary Sjögren syndrome (pSS), and how environmental factors and carrier sex might interact with risk-associated loci.• Immunomodulatory treatments that affect disease progression and activity have not been identified for pSS and remain unmet clinical needs.• Data from genetic and epigenetic studies point to Toll-like receptor and interferon signalling, lymphocyte regulation, antigen presentation and target tissue maintenance as the most relevant processes for therapeutic targeting.• Of the implicated pathogenic processes, Toll-like receptor and interferon signalling, as well as lymphocyte regulation, contain targets of various treatments in development or in clinical trials.• Novel treatment approaches for pSS could include modification of epigenetic signatures, interference with antigen presentation pathways and antigen-specific immunotherapy.Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author selfarchiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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Section: Target Tissue Maintenancementioning

confidence: 95%

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

2023

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“…Karagianni et al emphasize the importance of accurate diagnosis, separating those with genuine symptoms from those with subjective complaints. Despite the challenges in understanding the diverse roles of saliva, this is crucial for creating effective treatment plans [ 18 ].…”

Section: Reviewmentioning

confidence: 99%

Evaluating the Efficacy and Safety of Therapeutic Interventions in Sjögren's Syndrome: A Systematic Review Literature

Cooley,

Jaramillo,

Muñoz Armijos

2023

Cureus

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In strict accordance with PRISMA 2020 guidelines, our research team conducted a comprehensive systematic literature review (SLR) to explore the treatment and preventive strategies for Sjögren's Syndrome (SS). Leveraging a meticulous search strategy, we scoured reputable databases such as PubMed, PubMed Central, Google Scholar, Web of Science, and The Cochrane Library. Our analysis zeroed in on 10 seminal articles that met our stringent inclusion criteria, providing a holistic view of the existing treatment landscape for SS, along with emerging diagnostic tools and associated biomarkers indicative of lymphoma risk. From a clinical standpoint, our findings unequivocally highlight the detrimental effects of SS on patients' overall well-being. Of particular interest is the growing body of evidence that underscores the effectiveness of natural remedies and over-the-counter supplements rich in antioxidants as viable therapeutic interventions. Contrary to expectations, no single laboratory marker emerged as highly sensitive for the diagnosis of SS. On a promising note, dental implants have been demonstrated to offer lasting benefits with minimal side effects, emphasizing their potential utility in enhancing the oral health of individuals affected by SS. Given the evolving nature of treatment approaches for SS, our review strongly calls for further investigations. Such research endeavors are imperative for validating the effectiveness of these treatment options, whether they serve as primary or preventive care solutions, with the overarching aim of improving the quality of oral health among those suffering from SS.

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“…Indeed, hypomethylation of the promoters of interferon-inducible genes (STAT1, USP18, IFI44L, IRF5, TNFAIP8) in different cell types and genes involved in the trafficking of solutes typified most studies, reinforcing the importance of interferons and transmembrane transporters in the pathophysiology of the disease. Under this prism, Karagianni et al investigated the methylation status of five selected gene loci in the saliva of 16 SS patients (11). Compared to 10 sicca controls, a hypomethylated state that can epigenetically regulate the expression of the H19 imprinting control region (ICR) was revealed.…”

Section: New Insights Into Ss Pathogenesis Genetics Epigenetics and E...mentioning

confidence: 99%

“…This finding was correlated with C4 hypocomplementemia. Loss of H19 imprinting has been implicated in various types of cancer, but its importance in autoimmunity is unknown (11). Interestingly, quantitative differences in DNA methylation have been observed between two alleles of a polymorphic loci, forming an epigenetic mechanistic channel between DNA sequence variations (SNPs) and disease predisposition.…”

Section: New Insights Into Ss Pathogenesis Genetics Epigenetics and E...mentioning

confidence: 99%

One year in review 2021: Sjögren's syndrome

Ferro

Vagelli

Bruni

et al. 2021

Clinical and Experimental Rheumatology

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Sjögren's syndrome (SS) is a multifactorial systemic autoimmune disease of unknown aetiology characterised by a wide spectrum of different clinical manifestations and scattered complications. Recently, great efforts have been made to elucidate mechanisms involved in the pathogenesis of the disease in order to identify exploitable therapeutic targets in SS. Similarly, novel insights have enabled to better define disease phenotypes and different outcomes. Ultimately, the discovery of new potential therapeutic targets and a better stratification of patients are paving new avenues for novel treatment options and treat-to-target therapeutic approach. In this review, we will provide a critical digest of the recent literature published in 2020 on SS pathogenesis, clinical manifestations and novel treatment options.

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Epigenetic alterations in Sjögren's syndrome patient saliva

Cited by 7 publications

References 25 publications

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

Evaluating the Efficacy and Safety of Therapeutic Interventions in Sjögren's Syndrome: A Systematic Review Literature

One year in review 2021: Sjögren's syndrome

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