Department of Natural Sciences, School of Arts and Sciences, Lebanese American University (LAU), Beirut, Lebanon.
Orphanet J Rare Dis. 2024 Feb 26;19(1):90. doi: 10.1186/s13023-024-03098-w.
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.
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病，由 MEFV（地中海热）基因的突变引起，影响来自地中海地区的人群。在严重程度和临床表现方面观察到的高度变异性不仅存在于不同种族之间，也存在于不同家庭之间，这主要与 MEFV 等位基因异质性和一些修饰基因有关。除了 FMF 的遗传因素外，环境通过各种表观遗传机制，包括 DNA 甲基化、组蛋白修饰和非编码 RNA，在该疾病的发展和表现中也起着重要作用。事实上，表观遗传事件已被确定为 FMF 的一个重要病理生理决定因素，也是影响疾病临床表现和结局的共同因素。因此，更好地了解表观遗传因素对自身炎症性疾病（如 FMF）的贡献对于改善疾病预后和潜在开发有效的靶向治疗方法至关重要。在这篇综述中，我们强调了最新的关于表观遗传学在 FMF 中的作用的研究进展。
