Familial Mediterranean fever and microRNAs

IF 2.3 4区 医学 Q3 GENETICS & HEREDITY International Journal of Immunogenetics Pub Date : 2023-10-04 DOI:10.1111/iji.12640
Aslihan Esra Bildirici
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Abstract

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.

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家族性地中海热与microrna
家族性地中海热(FMF)是一种由MEFV(地中海热)基因位点的功能突变获得引起的遗传性疾病。FMF在全世界影响超过10万人,通常见于地中海东部地区,并导致对患者的生活质量和卫生系统产生重大影响的终身疾病。在临床诊断的FMF患者中发现低渗透或杂合的MEFV基因突变,认为表观遗传或环境因素可能在FMF发病机制中发挥作用。表观遗传学可以定义为在不改变基因组的情况下影响基因表达的可遗传变化。MicroRNAs (miRNAs)是一类主要的小分子非编码rna,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。本文综述了近几十年来关于mirna在FMF发病机制中的作用的研究,并讨论了mirna作为治疗药物在诊断和治疗中的重要性。
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来源期刊
CiteScore
4.70
自引率
0.00%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are: -studies of blood groups and other surface antigens- cell interactions and immune response- receptors, antibodies, complement components and cytokines- polymorphism- evolution of the organisation, control and function of immune system components- anthropology and disease associations- the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies- All papers are seen by at least two independent referees and only papers of the highest quality are accepted.
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