Sivas University of Science and Technology, Sivas, Türkiye.
Int J Immunogenet. 2023 Dec;50(6):273-280. doi: 10.1111/iji.12640. Epub 2023 Oct 4.
Familial Mediterranean fever (FMF) is an inherited disorder caused by the gain of function mutations in MEFV (MEditerranean FeVer) gene loci. FMF affects more than 100,000 people worldwide and generally seen in the eastern Mediterranean region and causes the lifelong diseases which have a significant effect on the patient's life quality and health systems. The identification of low penetrant or heterozygous MEFV gene mutations in clinically diagnosed FMF patients was considered that epigenetic or environmental factors may display a role in FMF pathogenesis. Epigenetics might be defined as heritable changes that affect gene expression without any changes in the genome. MicroRNAs (miRNAs) are the main group of small noncoding RNAs, and an important element of epigenetic mechanisms and their discoveries revolutionized our knowledge about biological processes, such as malignant, infectious and autoimmune mechanisms, and contributed to the development of the epigenetic areas. In this review, the studies focusing on the roles of miRNAs in FMF pathogenesis in the last decades were examined and the importance of miRNAs as therapeutic agents which are promising for diagnosis and treatment was discussed.
家族性地中海热（FMF）是一种遗传性疾病，由 MEFV（地中海热）基因座的功能获得性突变引起。FMF 影响全球超过 100,000 人，通常见于东地中海地区，导致终身疾病，对患者的生活质量和健康系统有重大影响。在临床诊断为 FMF 的患者中发现低外显率或杂合性 MEFV 基因突变，表明表观遗传或环境因素可能在 FMF 发病机制中发挥作用。表观遗传学可定义为影响基因表达而基因组无任何变化的可遗传变化。微小 RNA（miRNA）是小非编码 RNA 的主要群体，是表观遗传机制的重要组成部分，它们的发现彻底改变了我们对生物过程的认识，如恶性、感染和自身免疫机制，并促进了表观遗传领域的发展。在这篇综述中，检查了过去几十年中 miRNA 在 FMF 发病机制中的作用的研究，并讨论了 miRNA 作为治疗剂的重要性，它们在诊断和治疗方面具有广阔的应用前景。
