MicroRNAs (miRNAs) constitute a class of short, non-coding RNAs, which have important role in post-transcriptional regulation of genes expression by base-pairing with their target messenger RNA (mRNA). In recent years, miRNAs biogenesis, gene silencing mechanism and implication in various diseases have been thoroughly investigated. Many scientific findings indicate the altered expression of specific miRNA in the brains of patients affected by neurodegenerative diseases (NDs) such as Alzheimer's disease, Parkinson's disease and Huntington disease. The progressive optic nerve neuropathy associated with changed miRNA profile was also observed during glaucoma development. This suggests that the miRNAs may have a crucial role in these disorders, contributing to the neuronal cell death. A better understanding of molecular mechanism of these disorders will open a new potential way of ND treatment. In this review, the miRNAs role in particular neurodegenerative disorders and their possible application in medicine was discussed.
Our data has shown that GEMIN3 gene (rs197388) polymorphisms might be associated with a risk of POAG development in the Polish population. This is the first report evaluating the polymorphic variants of miRNA processing genes, RAN and GEMIN3, with a changed risk of glaucoma.
PurposeMany reports suggest the correlation between altered microRNA level and the pathogenesis of glaucoma. It is suspected that disruption in microRNA processing machinery may influence microRNAs action. The single nucleotide polymorphisms in genes DGCR8 and XPO5, which are involved in microRNA biogenesis may be the key factor in this process.MethodsThe blood samples of 80 patients affected by primary open angle glaucoma and 250 age matched controls were enrolled to this study. The DNA was isolated from the peripheral blood lymphocytes. The polymorphic variant frequencies of DGCR8 (rs 3757) and XPO5 (rs 1107) genes were determined using TaqMan® SNP Genotyping Assays.ResultsThe statistical analysis revealed that the polymorphism of DGCR8 gene did not affect to the risk of primary open angle glaucoma. While, the TT genotype of XPO5 was found to be present mainly in patients not affected by glaucoma (P=0.049746).ConclusionsIn conclusion, it was evaluated that the TT genotype of XPO5 gene might have protective effect on the risk of primary open angle glaucoma. Therefore, future analysis of polymorphic variants of genes involved in microRNA biogenesis could be used for patient's diagnosis according to glaucoma occurence.
PurposeMany reports suggest the association between altered miRNA level and the pathogenesis of glaucoma. The single nucleotide polymorphisms in genes DGCR8 and XPO5, which are involved in microRNA biogenesis, may be the key factor in this process. The aim of this study was the analysis of the single nucleotide polymorphisms of DGCR8 and XPO5 genes, which are involved in miRNA processing pathway, in relations with primary open‐angle glaucoma (POAG).MethodsThe material used in the experiment was blood obtained from patients affected by primary open‐angle glaucoma and age matched controls. The control groups rs3757 DGCR8 and rs11077 XPO5 consisted of 135 and 140 subjects respectively. The rs3757 DGCR8 study group consisted of 137 patients, while rs11077 XPO5 number of patients was 138.The polymorphic variant frequencies of rs3757 and rs1107 were determined using DNA isolated from the peripheral blood lymphocytes in TaqMan® SNP Genotyping Assays.ResultsThe statistical analysis revealed that the genotype AG of DGCR8 rs3757 occurred more frequently in healthy individuals (p = 0.001), while homozygote GG was present mostly in people affected by primary open‐angle glaucoma (p = 0.003). No association between the risk of POAG and AC/CC genotypes of XPO5 was found.ConclusionsDuring the experiment it was evaluated that genotype AG in rs3757 DGCR8 exhibits protective effect, decreasing the risk of primary open angle glaucoma, while the homozygote GG probably is associated with increased risk of glaucoma. The analysis of polymorphic variants of the genes involved in miRNA biogenesis could enable people classification to high‐risk group. This work was supported by grant NCN no. 2012/05/B/NZ7/02502.
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