Polymorphisms in miRNA genes and their involvement in autoimmune diseases susceptibility
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REVIEW
Polymorphisms in miRNA genes and their involvement in autoimmune diseases susceptibility Andrea Latini 1 & Cinzia Ciccacci 1 & Giuseppe Novelli 1 & Paola Borgiani 1
# Springer Science+Business Media, LLC 2017
Abstract MicroRNAs (miRNAs) are small non-coding RNA molecules that negatively regulate the expression of multiple protein-encoding genes at the post-transcriptional level. MicroRNAs are involved in different pathways, such as cellular proliferation and differentiation, signal transduction and inflammation, and play crucial roles in the development of several diseases, such as cancer, diabetes, and cardiovascular diseases. They have recently been recognized to play a role also in the pathogenesis of autoimmune diseases. Although the majority of studies are focused on miRNA expression profiles investigation, a growing number of studies have been investigating the role of polymorphisms in miRNA genes in the autoimmune diseases development. Indeed, polymorphisms affecting the miRNA genes can modify the set of targets they regulate or the maturation efficiency. This review is aimed to give an overview about the available studies that have investigated the association of miRNA gene polymorphisms with the susceptibility to various autoimmune diseases and to their clinical phenotypes. Keywords MicroRNAs . Polymorphisms . Genetic susceptibility . Autoimmune diseases
Introduction MicroRNAs (miRNAs) consist of a class of small, approximately 22-nucleotide-long, endogenous non-coding RNAs Andrea Latini and Cinzia Ciccacci contributed equally to this work. * Cinzia Ciccacci [email protected]
1
Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, 00133 Rome, Italy
that negatively regulate gene expression [1]. MiRNAs regulate the expression of multiple protein-encoding genes at posttranscriptional level by inhibiting translation or inducing messenger RNA (mRNA) degradation [2]. Currently, the number of recognized human miRNAs reported by miRbase is about 2000. Although miRNAs constitute only 3% of the human genome, they regulate approximately 90% of genes [3]. A single miRNA can regulate hundreds to thousands of target genes, thus playing a significant role in the regulation of several activities such as differentiation, proliferation, apoptosis, hematopoiesis and controlling the development of a normal and functional immune system. MiRNAs have been found in tissues, serum, plasma and other body fluids (i.e. urine, tear, ascitic fluid, amniotic fluid) in a stable form, which is protected from endogenous RNAse activity due to its incorporation into the complex of protein RNA-induced silencing complex (RISC) [4]. The expression of miRNAs can be induced by a variety of stimuli, including cellular stress and inflammation. Furthermore, mutations, epigenetic inactivation or gene amplification are able to produce a downregulation or overexpression of miRNAs. For this reason, miRNAs could be useful as biomarkers for different pathologies (i.e. cancer, autoimmune disease, a
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