The Assessment of Selected miRNA Profile in Familial Mediterranean Fever

• Familial Mediterranean fever (FMF) is the most prevalent autoinflammatory disease. Typical findings are recurrent fever attacks with serositis, skin rash, and synovitis. FMF is caused by mutations in the MEFV gene, encoding pyrin protein. Pyrin functions in innate immunity and triggers inflammation via inflammatory mediators' production and acts as the primary regulatory component of the inflammasome. On the other hand, various miRNAs play crucial roles in the pathogenesis of different types of cancers and immune-related and neurodegenerative diseases. However, their association with FMF is still unclear. Therefore, in this study, we assessed the roles of selected thirteen miRNAs associated with immune functions. We recruited genetically diagnosed 28 FMF patients and 28 healthy individuals. The expression profiling of the miRNAs was determined by qRT-PCR and normalized to SNORD61. Our analysis revealed that miR-34a-5p, miR-142-3p, miR-216a-5p, miR-340-5p, miR-429, and miR-582-5p were upregulated, whereas miR-107, miR-569, and miR-1304-5p were downregulated in the FMF patients. Among them, miR-107 was found to be the most remarkable in M694V homozygous mutants compared to other homozygous mutants. During clinical follow-up of the patients with M694V mutation, which is closely related to amyloidosis, evaluation of mir-107 expression might be crucial and suggestive. Our results showed that miRNAs might serve a function in the pathogenesis of FMF. Further studies may provide novel and effective diagnostic and therapeutic agents that target examined miRNAs. Targeting miRNAs in FMF seems to be promising and may yield a new generation of rational therapeutics and diagnostic or monitoring tools enabling FMF treatment.

Ämnesord

NATURVETENSKAP  -- Biologi -- Genetik (hsv//swe)

NATURAL SCIENCES  -- Biological Sciences -- Genetics (hsv//eng)

Nyckelord

microRNA

microRNA 107

microRNA 1304 5p

microRNA 142 3p

microRNA 216a 5p

microRNA 340 5p

microRNA 34a 5p

microRNA 429

microRNA 569

microRNA 582 5p

unclassified drug

biological marker

MEFV protein

human

MIRN107 microRNA

human

pyrin

adult

amyloidosis

Article

clinical article

controlled study

down regulation

familial Mediterranean fever

female

follow up

gene

gene expression level

gene expression profiling

gene targeting

genetic association

genotype

heterozygote

homozygote

human

innate immunity

male

pathogenesis

polymerase chain reaction

protein expression

protein fingerprinting

real time polymerase chain reaction

snord61 gene

upregulation

young adult

blood

case control study

genetics

mutation

pathology

Biomarkers

Case-Control Studies

Humans

MicroRNAs

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)