MEFV gene methylation pattern analysis in familial Mediterranean fever patients with altered expression levels

Ulum, YZ A; Peynircioglu, B B; Batu, Ezgi Deniz; Güler, Çağatay; Karadağ, Ömer; Ertenli, A. I.; Kiraz, Sedat; Özen, Seza; Yılmaz, Engin

doi:10.1186/1546-0096-13-s1-p113

Cited by 2 publications

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“…For instance, neutrophils from FMF patients showed a lower level of MEFV gene expression compared with healthy donors, although there were no methylation differences [144]. Therefore, although DNA methylation could have a function in FMF pathology by altering the expression of pyrin, more precise studies are needed to determine its exact role.…”

Section: Familial Mediterranean Fevermentioning

confidence: 99%

Understanding the Relevance of DNA Methylation Changes in Immune Differentiation and Disease

Calle-Fabregat

Morante-Palacios

Ballestar

2020

Genes

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Immune cells are one of the most complex and diverse systems in the human organism. Such diversity implies an intricate network of different cell types and interactions that are dependently interconnected. The processes by which different cell types differentiate from progenitors, mature, and finally exert their function requires an orchestrated succession of molecular processes that determine cell phenotype and function. The acquisition of these phenotypes is highly dependent on the establishment of unique epigenetic profiles that confer identity and function on the various types of effector cells. These epigenetic mechanisms integrate microenvironmental cues into the genome to establish specific transcriptional programs. Epigenetic modifications bridge environment and genome regulation and play a role in human diseases by their ability to modulate physiological programs through external stimuli. DNA methylation is one of the most ubiquitous, stable, and widely studied epigenetic modifications. Recent technological advances have facilitated the generation of a vast amount of genome-wide DNA methylation data, providing profound insights into the roles of DNA methylation in health and disease. This review considers the relevance of DNA methylation to immune system cellular development and function, as well as the participation of DNA methylation defects in immune-mediated pathologies, illustrated by selected paradigmatic diseases.

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Section: Familial Mediterranean Fevermentioning

confidence: 99%

Understanding the Relevance of DNA Methylation Changes in Immune Differentiation and Disease

Calle-Fabregat

Morante-Palacios

Ballestar

2020

Genes

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“…However, this hypothesis was not confirmed due to inconsistencies in findings linking MEFV methylation and disease severity. For instance, a study conducted by Ulum et al (2015) on Turkish children diagnosed with FMF revealed that there is no correlation between the methylation of the MEFV gene and the clinical symptoms presented by the patients [ 37 ]. The same research showed that patients homozygous for the M694V mutation had lower MEFV gene expression than patients heterozygous for the same mutation, thus suggesting the involvement of other epigenetic factors in the clinical picture of FMF.…”

Section: Dna Methylationmentioning

confidence: 99%

Updates on the role of epigenetics in familial mediterranean fever (FMF)

Chaaban,

Salman,

Karam

et al. 2024

Orphanet J Rare Dis

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Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutations in the MEFV (MEditerranean FeVer) gene that affects people originating from the Mediterranean Sea. The high variability in severity and clinical manifestations observed not only between ethnic groups but also between and within families is mainly related to MEFV allelic heterogeneity and to some modifying genes. In addition to the genetic factors underlying FMF, the environment plays a significant role in the development and manifestation of this disease through various epigenetic mechanisms, including DNA methylation, histone modification, and noncoding RNAs. Indeed, epigenetic events have been identified as an important pathophysiological determinant of FMF and co-factors shaping the clinical picture and outcome of the disease. Therefore, it is essential to better understand the contribution of epigenetic factors to autoinflammatory diseases, namely, FMF, to improve disease prognosis and potentially develop effective targeted therapies. In this review, we highlight the latest updates on the role of epigenetics in FMF.

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MEFV gene methylation pattern analysis in familial Mediterranean fever patients with altered expression levels

Abstract: Ulum et al.: MEFV gene methylation pattern analysis in familial Mediterranean fever patients with altered expression levels.

Cited by 2 publications

References 0 publications

Understanding the Relevance of DNA Methylation Changes in Immune Differentiation and Disease

Understanding the Relevance of DNA Methylation Changes in Immune Differentiation and Disease

Updates on the role of epigenetics in familial mediterranean fever (FMF)

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