The emerging role of epigenetics in human autoimmune disorders
Open accessAbstract
Epigenetic pathways play a pivotal role in the development and function of the immune system. Over the last decade, a growing body of studies has been published out seeking to explain a correlation between epigenetic modifications and the development of autoimmune disorders. Epigenetic changes, such as DNA methylation, histone modifications, and noncoding RNAs, are involved in the pathogenesis of autoimmune diseases mainly by regulating gene expression. This paper reviews the importance of epigenetic alterations during the development of the most prevalent human autoimmune diseases, such as systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), systemic sclerosis (SSc), Sjogren's syndrome (SS), autoimmune thyroid diseases (AITD), and type 1 diabetes (T1D), aiming to provide new insights in the pathogenesis of autoimmune diseases and the possibility to develop novel therapeutic approaches targeting the epigenome.
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Positive regulation of miRNA-510 and negative regulation of miRNA-342 and 191 contribute to the development of diabetes.
“It has also been reported that there is positive regulation of miRNA-510, as well as negative regulation of miRNA-342 and 191, which contribute to the development of the disease [90,91].”
From Revisiting Epigenetics Fundamentals and Its Biomedical Implications (2024) · cites this paper as [90]
The Type 1 diabetes (T1D) section reports upregulated miR-510 and downregulated miR-342 and miR-191 in T1D. It describes these expression changes as associated with T1D, but does not establish that they contribute to the disease’s development. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn diabetes, increased levels of histone methylations have been identified in the promoter of CLT4, a gene highly susceptible to type 1 diabetes, and correlated with the activation of T cells.
“In other diseases such as diabetes, increased levels of histone methylations have been identified in the promoter of CLT4, a gene highly susceptible to type 1 diabetes that has been correlated with the activation of T cells.”
From Revisiting Epigenetics Fundamentals and Its Biomedical Implications (2024) · cites this paper as [90]
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- Authors
- Mazzone, R., Zwergel, C., Artico, M., Taurone, S., Ralli, M., Greco, A., & Mai, A.
- Affiliations
- Italian Institute of Technology (IT)
- Sapienza University of Rome (IT)
- Fondazione G.B. Bietti (IT)
- Istituto Pasteur (IT)
- Corresponding author
- Mai, Antonello
- ORCID
- Venue
- Clinical Epigenetics
- Published
- 2019-02-26
- Volume
- 11
- Issue
- 1
- Pages
- 34-34
- ISSN
- 1868-7075 (ISSN-L)
- 1868-7083
- PMC
- PMC6390373
- OpenAlex
- W2941821853
- Cited by
- 318
- References
- 168
- Citations by year
- 2026: 27 · 2025: 44 · 2024: 55 · 2023: 52 · 2022: 45 · 2021: 41 · 2020: 34 · 2019: 17 · 2015: 1
- FWCI
- 3.11
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Clinical Epigenetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- IIT-Sapienza
- COST (CM1406)
- PRIN 2015 (prot. 20152TE5PK)
- AIRC 2016 (19162)
- Ministry of Health (PE-2013-02355271)
- National Institutes of Health (R01GM114306)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Health Sciences › Medicine › Rheumatology › Systemic Lupus Erythematosus Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- epigenetics, autoimmune disease, DNA methylation, histone modifications, non-coding RNA, gene expression regulation, systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, Sjögren's syndrome, autoimmune thyroid disease, type 1 diabetes, epigenetic therapy
- MeSH terms
- Autoimmune Diseases, Humans, Gene Expression Regulation, Neoplastic, DNA Methylation, RNA, Untranslated, Histone Code, Epigenesis, Genetic, Gene Regulatory Networks
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