Altered expression of apoptosis-related, circulating cell-free miRNAs in children with familial Mediterranean fever: a cross-sectional study

Karpuzoglu, Emin Murat; Ekinci, Rabia Miray Kışla; Balcı, Sibel; Bişgin, Atıl; Yılmaz, Mustafa

doi:10.1007/s00296-020-04541-4

Cited by 10 publications

(12 citation statements)

References 41 publications

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“…The known MEFV independent genetic modifiers are polymorphisms of IL-1β which is associated with disease severity [66] and harboring alpha/alpha genotype for serum amyloid A protein 1 (SAA1) gene which increases the risk of developing AA amyloidosis without affecting FMF disease characteristics [67]. Although specific alterations have been reported in epigenetics such as microRNAs and DNA methylation, their contribution to phenotypic variation has yet to be clarified [68][69][70]. The influence of specific environmental factors on FMF phenotype have not been defined, but country of residence is repeatedly reported as an independent modifier with living in Turkey, Armenia and Middle East increasing risk of severe disease and AA amyloidosis [71][72][73][74].…”

Section: Genetics and Environmental Factors' Effects On Phenotypic Vamentioning

confidence: 99%

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan¹,

Lachmann²

2020

Turk J Med Sci

111

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Familial Mediterranean fever (FMF) (OMIM #249100) is the most common hereditary autoinflammatory disease in the world. FMF is caused by gain of function mutations of MEFV gene which encodes an immune regulatory protein, pyrin. Over the last few years, we have witnessed several new developments in the pathogenesis, genetic testing, diagnosis, comorbidities, disease related damage and treatment approaches to FMF. Elucidation of some of the pathogenic mechanisms has led to the discovery of pathways involved in inflammatory, metabolic, cardiovascular and degenerative diseases. The use of next generation sequencing in FMF has revealed many new gene variants whose clinical significance may be clarified by developing functional assays and biomarkers. Clinically, although FMF is considered an episodic disease characterized by brief attacks, recent systematic studies have defined several associated chronic inflammatory conditions. Colchicine is the mainstay of FMF treatment, and interleukin (IL)-1 antagonists are the treatment of choice in refractory or intolerant cases. Experience of IL-1 antagonists, anakinra and canakinumab, is now available in thousands of colchicine resistant or intolerant FMF patients. In this contemporary review, we surveyed current FMF knowledge in the light of these recent advances.

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Section: Genetics and Environmental Factors' Effects On Phenotypic Vamentioning

confidence: 99%

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan¹,

Lachmann²

2020

Turk J Med Sci

111

View full text Add to dashboard Cite

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“…Colchicine has been used for centuries to treat FMF and particularly to prevent the amyloidosis. Interleukin-1 (IL-1) antagonists can be tried in cases of resistance or intolerance to treatment [ 1 , 4 ].…”

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%

“…miRNAs have complementary sequences to the target mRNA, bind the sequence, and regulate the protein expression [ 7 ]. miRNAs have variegated regulatory functions in biological processes such as metabolism, cell cycle, stem cell differentiation, viral replication, apoptosis, and immune response [ 4 , 8 ]. Abnormal miRNA expressions affect these processes and ultimately lead to various pathological consequences.…”

Section: Introductionmentioning

confidence: 99%

“…As described above, miRNAs have effects on immune response as well as in many cellular processes. Therefore, it is thought that miRNAs may also contribute to the pathogenesis of FMF, and there are limited studies in this area [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

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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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Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients

Sokkar,

Eldeen,

Lotfy

et al. 2024

Clin Rheumatol

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Altered expression of apoptosis-related, circulating cell-free miRNAs in children with familial Mediterranean fever: a cross-sectional study

Cited by 10 publications

References 41 publications

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

The Assessment of Selected miRNA Profile in Familial Mediterranean Fever

Altered expression of miR-17 and miR-148b in pediatric familial mediterranean fever patients

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