MicroRNAs (miRNAs) are a class of small noncoding RNAs, which function in posttranscriptional regulation of gene expression. They are powerful regulators of various cellular activities including cell growth, differentiation, development, and apoptosis. They have been linked to many diseases, and currently miRNA-mediated clinical trial has shown promising results for treatment of cancer and viral infection. This review provides an overview and update on miRNAs biogenesis, regulation of miRNAs expression, their biological functions, and role of miRNAs in epigenetics and cell-cell communication. In addition, alteration of miRNAs following exercise, their associationwith diseases, and therapeutic potential will be explained. Finally, miRNA bioinformatics tools and conventional methods for miRNA detection and quantification will be discussed.
Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor β (PDGF-Rβ) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-Rβ. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
Asthenozoospermia (AZS) which is characterised by decreased sperm motility is one of the main causes of male infertility. Recent studies demonstrated altered microRNAs (miRNAs) in total semen, seminal plasma and spermatozoa of asthenozoospermic men. In line with these studies, it was aimed to evaluate the miRNA expression profile in spermatozoa of unexplained asthenozoospermic men. Thirty‐nine cases with idiopathic AZS and 35 fertile and healthy men as control were included. After total RNA extraction from spermatozoa, high‐throughput sequencing technology was employed to display miRNA profiles in spermatozoa samples pooled from AZS cases and healthy controls. Relative quantification by real‐time PCR was performed to validate RNA‐seq results. SNORD48 was used as normaliser gene, and fold change was calculated by 2−ΔΔCt method. Profiling results showed that 18 altered miRNAs in AZS men in comparison to controls. Subsequently, seven miRNAs were selected to validate by RT‐PCR that showed MiR‐888‐3p significantly overexpressed in AZS cases (p = 0.014) in comparison with controls. It seems upregulation of miR‐888‐3p was associated with idiopathic AZS. This finding paves the way to the future investigation on the actual molecular role of miR‐888‐3p in aetiology of AZS.
Infertility is a worldwide problem affecting about 15% of couples trying to conceive. Asthenozoospermia (AZS) is one of the major causes of male infertility, diagnosed by reduced sperm motility, and has no effective therapeutic treatment. To date, a few genes have been found to be associated with AZS in humans and mice, but in most of cases its molecular aetiology remains unknown. Genetic causes of AZS may include chromosomal abnormalities, specific mutations of nuclear and mitochondrial genes. However recently, epigenetic factors, altered microRNAs expression signature, and proteomics have shed light on the pathophysiological basis of AZS. This review article summarises the reported genetic causes of AZS.
Tumor necrosis factor-α (TNF-α), a multifunctional proinflammatory cytokine, and vascular endothelial growth factor (VEGF), a major mediator of angiogenesis and vascular permeability, have been investigated in endometriosis patients of different populations. This study was carried out to investigate whether the two polymorphisms, TNF-α -1031T/C and VEGF +450G/C are associated with susceptibility to endometriosis in an Iranian population. Totally, 135 women with diagnosis of endometriosis and 173 women with no evidence of the disease were included in this study. The -1031T/C and +450G/C polymorphisms were assessed by PCR-RFLP analysis, using the two restriction enzymes BbsI and BsmFI, respectively. The frequencies of the TNF-α -1031TC genotype (p = 0.038) and the -1031 C allele (p = 0.048) were significantly lower in patients than control group. In contrast, no significant differences in the genotype and allele frequencies of the VEGF +450G/C polymorphism were found between the case and control groups. Our results suggest that the TNF-α -1031T/C polymorphism was associated with susceptibility to endometriosis in Iranian population, and the -1301C allele may have a protective role in development of endometriosis; On the contrary, we find no association between the VEGF +450G/C polymorphism and risk of endometriosis.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.