Experimental models in Familial Mediterranean Fever (FMF): Insights into pathophysiology and therapeutic strategies

Mezher, Nawal; Mroweh, Ola; Karam, Louna; Ibrahim, José-Noel; Kobeissy, Philippe Hussein

doi:10.1016/j.yexmp.2024.104883

Cited by 2 publications

(2 citation statements)

References 96 publications

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“…Given the shared pathophysiological features between FMF and BD, exploring similar mechanisms in different experimental models of FMF can help us gain more insights into the role of epigenetics in disease expression and manifestation [ 63 ].…”

Section: Histone Modificationmentioning

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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Section: Histone Modificationmentioning

confidence: 99%

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

Chaaban,

Salman,

Karam

et al. 2024

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

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“…A recent study using different cell types (synovial fibroblasts, monocytes, macrophages) showed that inflammation-related functional assays have an anti-inflammatory effect of miR-197-3p [ 9 ]. Various cell-line-based models have been developed for a more comprehensive understanding of the etiology and pathogenesis of FMF [ 10 ]. Furthermore, gene editing with CRISPR/Cas9 is used to understand the effect of the MEFV E583A mutation on IL-1β secretion [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages

Grigor’eva,

Karapetyan,

Malakhova

et al. 2024

IJMS

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Familial Mediterranean fever (FMF) is a systemic autoinflammatory disorder caused by inherited mutations in the MEFV (Mediterranean FeVer) gene, located on chromosome 16 (16p13.3) and encoding the pyrin protein. Despite the existing data on MEFV mutations, the exact mechanism of their effect on the development of the pathological processes leading to the spontaneous and recurrent autoinflammatory attacks observed in FMF, remains unclear. Induced pluripotent stem cells (iPSCs) are considered an important tool to study the molecular genetic mechanisms of various diseases due to their ability to differentiate into any cell type, including macrophages, which contribute to the development of FMF. In this study, we developed iPSCs from an Armenian patient with FMF carrying the M694V, p.(Met694Val) (c.2080A>G, rs61752717) pathogenic mutation in exon 10 of the MEFV gene. As a result of direct differentiation, macrophages expressing CD14 and CD45 surface markers were obtained. We found that the morphology of macrophages derived from iPSCs of a patient with the MEFV mutation significantly differed from that of macrophages derived from iPSCs of a healthy donor carrying the wild-type MEFV gene.

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Experimental models in Familial Mediterranean Fever (FMF): Insights into pathophysiology and therapeutic strategies

Cited by 2 publications

References 96 publications

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

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

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages

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