Ask about this productRelated genes to: MRPL45 Blocking Peptide
- Gene:
- MRPL45 NIH gene
- Name:
- mitochondrial ribosomal protein L45
- Previous symbol:
- -
- Synonyms:
- MGC11321
- Chromosome:
- 17q12
- Locus Type:
- gene with protein product
- Date approved:
- 2001-10-12
- Date modifiied:
- 2016-10-05
Related products to: MRPL45 Blocking Peptide
Related articles to: MRPL45 Blocking Peptide
- Primary liver cancer (PLC) and metformin are not well understood to be associated. We conducted a Mendelian randomization (MR) analysis using genetic data from IEU OpenGWAS and FinnGen R10, with metformin as the exposure and PLC as the outcome. The inverse variance weighting (IVW) method was the primary analytical approach, with heterogeneity assessed by Cochran's Q test, pleiotropy by MR-Egger intercept, and outliers by MR-PRESSO. Bioinformatics analyses further explored potential mechanisms, including differential gene expression, protein-protein interactions (PPI), Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses, immune cell infiltration analysis, and drug sensitivity analysis. MR results demonstrated a significant association between metformin use and reduced risk of PLC ( = -5.6046, OR = 0.0037, = 0.026), with a Benjamini-Hochberg false discovery rate (FDR) adjusted value of 0.13. However, no causal effect was observed for hepatocellular carcinoma (HCC) or intrahepatic cholangiocarcinoma (ICC). By cross-referencing transcriptome data from the GEO database GSE241466 with metformin-related gene loci, 34 overlapping genes were identified. Differentially expressed genes (DEGs) were filtered using |log2FC| > 0 and < 0.05, with five hub genes (DDX52, KIF11, GCDH, MRPL45, and TICRR) being particularly prominent. Functional enrichment analysis revealed involvement in cGMP-PKG signaling and fatty acid metabolism pathways. Further validation with GEPIA2, TIMER, and TISCH showed correlations between these genes and immune infiltration, while GSCA-based drug sensitivity analysis suggested therapeutic relevance. In summary, these findings indicate that metformin may reduce PLC risk by modulating metabolic and immune-related pathways, supporting its potential value as an adjunct therapeutic agent. However, further validation through large-scale clinical and basic research is warranted. - Source: PubMed
Publication date: 2025/11/02
Ma YongxinQi JiaojiaoChen ZhiqiangZhang YuboLiu KejunSuo JiaxinChen BendongBu Yang - Hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) is a rare genetic disorder caused by pathogenic variants in the SERPING1 gene and characterised by swelling and a highly variable clinical phenotype. We aimed to identify novel modifying genetic factors predisposing to the clinical symptoms. We performed whole exome sequencing (WES) and comprehensive bioinformatic analysis in symptomatic and asymptomatic (three duos) family members with HAE-C1-INH. Selected variants identified using WES (present in all asymptomatic and absent in symptomatic patients) were determined using Sanger sequencing. We included 88 clinically well-characterised HAE-C1-INH patients from south-eastern Europe (nine asymptomatic) from 42 unrelated families. We identified 39 variants in 23 genes (ANKRD36C, ARGFX, CC2D2B, IL5RA, IRF2BP2, LGR6, MRPL45, MUC3A, NPIPA1, NRG1, OR5M1, OR5M3, OR5M10, OR8U3, PLCL1, PRSS3, PSKH2, PTPRA, RTP4, SEZ6, SLC25A5, VWA3A, and ZNF790). We selected variants in CC2D2B and PLCL1, which were analysed using Sanger sequencing in the entire group of HAE-C1-INH. We found significant differences in the frequencies of the CC2D2B c.190A>G (rs17383738) variant between symptomatic and asymptomatic patients, where heterozygotes were more common in asymptomatic HAE-C1-INH patients in comparison to symptomatic patients (55 % vs 23%; P = 0.049, OR = 4.24, 95% CI 1.07-14.69). Our study identified novel genetic factors that modify the clinical variability of HAE-C1-INH. We further demonstrated, in a large cohort, the importance of the CC2D2B gene as a disease-modifying factor. Based on linkage disequilibrium analysis, the CCNJ and ZNF518A genes might also be involved in the clinical variability of HAE-C1-INH. - Source: PubMed
Publication date: 2024/04/27
Rupar NinaŠelb JulijKošnik MitjaZidarn MihaelaAndrejević SlađanaČulav LjerkaGrivčeva-Panovska VesnaKorošec PeterRijavec Matija - Increasing evidence has indicated that modulation of epigenetic mechanisms, especially methylation and long-non-coding RNA (lncRNA) regulation, plays a pivotal role in the process of atherosclerosis; however, few studies focused on revealing the epigenetic-related subgroups during atherosclerotic progression using unsupervised clustering analysis. Hence, we aimed to identify the epigenetics-related differentially expressed genes associated with atherosclerosis subtypes and characterize their clinical utility in atherosclerosis. Eighty samples with expression data (GSE40231) and 49 samples with methylation data (GSE46394) from a large artery plaque were downloaded from the GEO database, and aberrantly methylated-differentially expressed (AMDE) genes were identified based on the relationship between methylation and expression. Furthermore, we conducted weighted correlation network analysis (WGCNA) and co-expression analysis to identify the core AMDE genes strongly involved in atherosclerosis. K-means clustering was used to characterize two subtypes of atherosclerosis in GSE40231, and then 29 samples were recognized as validation dataset (GSE28829). In a blood sample cohort (GSE90074), chi-square test and logistic analysis were performed to explore the clinical implication of the K-means clusters. Furthermore, significance analysis of microarrays and prediction analysis of microarrays (PAM) were applied to identify the signature AMDE genes. Moreover, the classification performance of signature AMDE gene-based classifier from PAM was validated in another blood sample cohort (GSE34822). A total of 1,569 AMDE mRNAs and eight AMDE long non-coding RNAs (lncRNAs) were identified by differential analysis. Through the WGCNA and co-expression analysis, 32 AMDE mRNAs and seven AMDE lncRNAs were identified as the core genes involved in atherosclerosis development. Functional analysis revealed that AMDE genes were strongly related to inflammation and axon guidance. In the clinical analysis, the atherosclerotic subtypes were associated with the severity of coronary artery disease and risk of adverse events. Eight genes, including , , , , , , , and , were selected as the signature AMDE genes that most significantly differentiated between atherosclerotic subtypes. Ultimately, the area under the curve of signature AMDE gene-based classifier for atherosclerotic subtypes was 0.858 and 0.812 in GSE90074 and GSE34822, respectively. This study identified the AMDE genes (lncRNAs and mRNAs) that could be implemented in clinical clustering to recognize high-risk atherosclerotic patients. - Source: PubMed
Publication date: 2020/12/14
Xue YuzhouGuo YongzhengLuo SuxinZhou WeiXiang JingZhu YuansongXiang ZhenxianShen Jian - Mitochondrial ribosomal proteins (MRPs) are essential components for the structural and functional integrity of the mitoribosome complex. Throughout evolution, the mammalian mitoribosome has acquired new Mrp genes to compensate for loss of ribosomal RNA. More than 80 MRPs have been identified in mammals. Here we document expression pattern of 79 Mrp genes during mouse development and adult tissues and find that these genes are consistently expressed throughout early embryogenesis with little stage or tissue specificity. Further investigation of the amino acid sequence reveals that this group of proteins has little to no protein similarity. Recent work has shown that the majority of Mrp genes are essential resulting in early embryonic lethality, suggesting no functional redundancy among the group. Taken together, these results indicate that the Mrp genes are not a gene family descended from a single ancestral gene, and that each MRP has unique and essential role in the mitoribosome complex. The lack of functional redundancy is surprising given the importance of the mitoribosome for cellular and organismal viability. Further, these data suggest that genomic variants in Mrp genes may be causative for early pregnancy loss and should be evaluated as clinically. - Source: PubMed
Publication date: 2020/09/25
Cheong AgnesLingutla RanjanaMager Jesse - The direct consequence of metabolic syndrome (MS) is the increased morbidity and mortality caused by the heart disease. We tried to explain why the heart is more severely damaged during MS from the point of mitochondria, the center of cellular metabolism. - Source: PubMed
Publication date: 2017/09/29
Zheng NingningWei DanDai BoZheng LanyanZhao MingyiXin NaChi ZhihongZhao YitingMa TingxianJahane RabitaSun Luning