Potential of miRNAs to predict and treat inflammation from the perspective of Familial Mediterranean Fever

Balcı-Peynircioğlu, Banu; Akkaya-Ulum, Yeliz Z.; Akbaba, Tayfun Hilmi; Tavukcuoglu, Zeynep

doi:10.1007/s00011-019-01272-6

Cited by 20 publications

(16 citation statements)

References 53 publications

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“…A differential expression of miRNA in the acute and remission phases in FMF and TRAPS patients could be shown. For example, it has been shown that NLRP3 inflammasome activity is negatively controlled by miR-223 and its expression is associated with NLRP3-AID [259,260]. Additionally, proteomics and metabolomics can be used to identify molecular-pathological layers in AIDs in the near future by cooperative researches [6].…”

Section: New Insights and Perspectivesmentioning

confidence: 99%

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Donato¹,

d’Angelo²,

Breda³

et al. 2021

IJMS

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Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of cytokines, intracellular stress, defective regulatory pathways, altered protein folding, enhanced NF-kappaB signalling, ubiquitination disorders, interferon pathway upregulation and complement activation. Since the discover of pathogenic mutations of the pyrin-encoding gene MEFV in Familial Mediterranean Fever, more than 50 monogenic autoinflammatory diseases have been discovered thanks to the advances in genetic sequencing: the advent of new genetic analysis techniques and the discovery of genes involved in autoinflammatory diseases have allowed a better understanding of the underlying innate immunologic pathways and pathogenetic mechanisms, thus opening new perspectives in targeted therapies. Moreover, this field of research has become of great interest, since more than a hundred clinical trials for autoinflammatory diseases are currently active or recently concluded, allowing us to hope for considerable acquisitions for the next few years. General paediatricians need to be aware of the importance of this group of diseases and they should consider autoinflammatory diseases in patients with clinical hallmarks, in order to guide further examinations and refer the patient to a specialist rheumatologist. Here we resume the pathogenesis, clinical aspects and diagnosis of the most important autoinflammatory diseases in children.

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Section: New Insights and Perspectivesmentioning

confidence: 99%

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Donato¹,

d’Angelo²,

Breda³

et al. 2021

IJMS

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“…It is known that they are involved in most types of inflammatory responses and contribute significantly to the magnitude of the response by impacting the development of inflammatory cell subsets and by establishing the level of immune cell function [ 99 ]. A review by Balci-Peynircioglu et al summarizes miRNAs associated with FMF, TRAPS, NLRP3-AID, Behçet’s disease, and NOMID, with a strong emphasis on FMF specific miRNAs [ 100 ]. Studies demonstrated that during fever attacks in three FMF groups differing in MEFV mutation location (exon 10, exon 3, neither exon 3 nor exon 10), the level of 25 circulating miRNAs changed specifically for the respective group [ 101 ].…”

Section: Other Factors Driving Saidsmentioning

confidence: 99%

Systemic autoinflammatory diseases

Krainer

Siebenhandl

Weinhäusel

2020

Journal of Autoimmunity

131

107

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Systemic autoinflammatory diseases (SAIDs) are a growing group of disorders caused by a dysregulation of the innate immune system leading to episodes of systemic inflammation. In 1997, MEFV was the first gene identified as disease causing for Familial Mediterranean Fever, the most common hereditary SAID. In most cases, auto-inflammatory diseases have a strong genetic background with mutations in single genes. Since 1997 more than 30 new genes associated with autoinflammatory diseases have been identified, affecting different parts of the innate immune system. Nevertheless, for at least 40–60% of patients with phenotypes typical for SAIDs, a distinct diagnosis cannot be met, leading to undefined SAIDs (uSAIDs). However, SAIDs can also be of polygenic or multifactorial origin, with environmental influence modulating the phenotype. The implementation of a disease continuum model combining the adaptive and the innate immune system with autoinflammatory and autoimmune diseases shows the complexity of SAIDs and the importance of new methods to elucidate molecular changes and causative factors in SAIDs. Diagnosis is often based on clinical presentation and genetic testing. The timeline from onset to diagnosis takes up to 7.3 years, highlighting the indisputable need to identify new treatment and diagnostic targets. Recently, other factors are under investigation as additional contributors to the pathogenesis of SAIDs. This review gives an overview of pathogenesis and etiology of SAIDs, and summarizes recent diagnosis and treatment options.

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“…Pyrin has a critical role in innate immunity and triggers inflammation via inflammatory mediators' production and acts as the inflammasome's primary regulatory component. The gain-of-function mutations in the MEFV gene lead to excess pyrin production and inflammatory process of FMF [ 5 , 6 ]. Autosomal recessive form (# 249100) and in recent years, with existing heterozygote MEFV mutant families, autosomal dominant form (# 134610) of FMF were defined in the OMIM database.…”

Section: Introductionmentioning

confidence: 99%

“…The genotype alone might not enable phenotypic differences in patients. It is thought that epigenetic mechanisms, modifier genes, and epigenetic factors may contribute to this variability [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

The Assessment of Selected miRNA Profile in Familial Mediterranean Fever

Kahraman

Egin

Tatar

et al. 2021

BioMed Research International

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Familial Mediterranean fever (FMF) is the most prevalent autoinflammatory disease. Typical findings are recurrent fever attacks with serositis, skin rash, and synovitis. FMF is caused by mutations in the MEFV gene, encoding pyrin protein. Pyrin functions in innate immunity and triggers inflammation via inflammatory mediators’ production and acts as the primary regulatory component of the inflammasome. On the other hand, various miRNAs play crucial roles in the pathogenesis of different types of cancers and immune-related and neurodegenerative diseases. However, their association with FMF is still unclear. Therefore, in this study, we assessed the roles of selected thirteen miRNAs associated with immune functions. We recruited genetically diagnosed 28 FMF patients and 28 healthy individuals. The expression profiling of the miRNAs was determined by qRT-PCR and normalized to SNORD61. Our analysis revealed that miR-34a-5p, miR-142-3p, miR-216a-5p, miR-340-5p, miR-429, and miR-582-5p were upregulated, whereas miR-107, miR-569, and miR-1304-5p were downregulated in the FMF patients. Among them, miR-107 was found to be the most remarkable in M694V homozygous mutants compared to other homozygous mutants. During clinical follow-up of the patients with M694V mutation, which is closely related to amyloidosis, evaluation of mir-107 expression might be crucial and suggestive. Our results showed that miRNAs might serve a function in the pathogenesis of FMF. Further studies may provide novel and effective diagnostic and therapeutic agents that target examined miRNAs. Targeting miRNAs in FMF seems to be promising and may yield a new generation of rational therapeutics and diagnostic or monitoring tools enabling FMF treatment.

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Potential of miRNAs to predict and treat inflammation from the perspective of Familial Mediterranean Fever

Cited by 20 publications

References 53 publications

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

Systemic autoinflammatory diseases

The Assessment of Selected miRNA Profile in Familial Mediterranean Fever

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