Biochemical Genetics最新文献

{"title":"Metabolomic Approach to Identify the Potential Metabolites from Alpinia malaccensis for Treating SARS-CoV-2 Infection.","authors":"Esrat Jahan, Tanoy Mazumder, Tarek Hasan, Khondoker Shahin Ahmed, Muhammed Amanat, Hemayet Hossain, Sumaiya Jannat Supty, Israt Jahan Liya, Md Sadikur Rahman Shuvo, A F M Shahid Ud Daula","doi":"10.1007/s10528-024-10869-4","DOIUrl":"https://doi.org/10.1007/s10528-024-10869-4","url":null,"abstract":"<p><p>The advent of the new coronavirus, leading to the SARS-CoV-2 pandemic, has presented a substantial worldwide health hazard since its inception in the latter part of 2019. The severity of the current pandemic is exacerbated by the occurrence of re-infection or co-infection with SARS-CoV-2. Hence, comprehending the molecular process underlying the pathophysiology of sepsis and discerning possible molecular targets for therapeutic intervention holds significant importance. For the first time, 31 metabolites were tentatively identified by GC-MS analysis from Alpinia malaccensis. On the other hand, five phenolic compounds were identified and quantified from the plant in HPLC-DAD analysis, including (-) epicatechin, rutin hydrate, rosmarinic acid, quercetin, and kaempferol. Nine GC-MS and five HPLC-identified metabolites had shown interactions with 45 and 30 COVID-19-associated human proteins, respectively. Among the proteins, PARP1, FN1, PRKCA, EGFR, ALDH2, AKR1C3, AHR, and IKBKB have been found as potential therapeutic targets to mitigate SARS-CoV-2 infection. KEGG pathway analysis also showed a strong association of FN1, EGFR, and IKBKB genes with SARS-CoV-2 viral replication and cytokine overexpression due to viral infection. Protein-protein interaction (PPI) analysis also showed that TP53, MMP9, FN1, EGFR, and NOS2 proteins are highly related to the genes involved in COVID-19 comorbidity. These proteins showed interaction with the plant phytoconstituents as well. As the study offers a robust network-based procedure for identifying biomolecules relevant to COVID-19 disease, A. malaccensis could be a good source of effective therapeutic agents against COVID-19 and related viral diseases.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Repetitive Sequences, Codon Usage Bias and Phylogenetic Analysis of the Plastome of Miliusa glochidioides.","authors":"Yangying Gan, Jingyao Ping, Xiaojing Liu, Caixia Peng","doi":"10.1007/s10528-024-10874-7","DOIUrl":"https://doi.org/10.1007/s10528-024-10874-7","url":null,"abstract":"<p><p>Annonaceae is the largest family in Magnoliales, exhibiting the greatest diversity among and within genera. In this study, we conducted an analysis of repetitive sequences and codon usage bias in the previously acquired plastome of Miliusa glochidioides. Using a concatenated dataset of shared genes, we constructed the phylogenetic relationships among 27 Annonaceae species. The results showed that the size of the plastomes in the Annonaceae ranged from 159 to 202 kb, with the size of the inverted repeat region ranging from 40 to 65 kb. Within the plastome of M. glochidioides, we identified 42 SSRs, 36 tandem repeats, and 9 dispersed repeats. These SSRs consist of three nucleotide types and eight motif types, with a preference for A/T bases, primarily located in the large single-copy regions and intergenic spacers. Tandem and dispersed repeat sequences were predominantly detected in the IR region. Through codon usage bias analysis, we identified 30 high-frequency codons and 11 optimal codons. The plastome of M. glochidioides demonstrated relatively weak codon usage bias, favoring codons with A/T endings, primarily influenced by natural selection. Phylogenetic analysis revealed that all four subfamilies formed monophyletic groups, with Cananga odorata (Ambavioideae) and Anaxagorea javanica (Anaxagoreoideae) successively nested outside Annonoideae + Malmeoideae. These findings improve our understanding of the plastome of M. glochidioides and provide additional insights for studying plastome evolution in Annonaceae.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.","authors":"Mona F Sokkar, Mona Hamdy, Mohamed B Taher, Heba El-Sayed, Eman Abdelmotaleb Bayomi, Khalda S Amr, Ghada Y El-Kamah","doi":"10.1007/s10528-024-10868-5","DOIUrl":"https://doi.org/10.1007/s10528-024-10868-5","url":null,"abstract":"<p><p>Iron loading is regarded as the primary cause of endocrine abnormalities in thalassemia major patients. Thus, the purpose of the current research was to explore the impact of thalassemia genotypes, hepcidin antimicrobial peptide (HAMP) and hereditary hemochromatosis (HFE) gene variants, and hepcidin expression on serum ferritin and endocrinal complications in thalassemia patients. The study comprised fifty beta-thalassemia cases and fifty age- and sex-matched controls. Genotyping of the Beta-globin gene (HBB), HAMP, and exon 2 of the HFE gene was performed using Sanger sequencing. C282Y (c.845G > A) variant of the HFE gene was determined by PCR-RFLP. Hepcidin mRNA expression was assessed by qRT-PCR. Biochemical and hormonal studies were done for all patients. Hypogonadism and short stature were found in 56% and 20% of the investigated cases, respectively. Molecular studies reported a statistically higher frequency of the HAMP variant c.-582A > G in thalassemic patients than controls. Significant downregulation of hepcidin expression was found in cases compared to healthy subjects that was significantly associated with short stature. Considering the thalassemia alleles, the IVSI.1G > A (β⁰) allele was statistically related to hypogonadism. Our results proposed that thalassemia genotypes and downregulated hepcidin expression were the potential risk factors for endocrinopathies in our cases. We also demonstrated an increased incidence of the HAMP promoter variant c.- 582A > G that might have a role in the pathogenesis of iron overload in thalassemic cases. Significant downregulation of hepcidin expression, that contributes to increased iron burden, could be used as a future therapeutic target in these patients.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Analysis of Complete Mitochondrial Genomes of Five Chromodorididae Species (Nudibranchia:Doridina).","authors":"Tianyu Li, Shengping Zhong, Beihua Wen, Lihua Jiang, Man Zhang","doi":"10.1007/s10528-024-10878-3","DOIUrl":"https://doi.org/10.1007/s10528-024-10878-3","url":null,"abstract":"<p><p>Mitochondrial genome is an important molecular marker for exploring the phylogenetic relationships of species and revealing molecular evolution. In the present study, 5 mitogenomes of Chromodorididae (Chromodoris lochi, Chromodoris colemani, Chromodoris elisabethina, Chromodoris annae and Hypselodoris whitei) were systemically investigated. The lengths of the mitogenomes sequences were 14248 bp, 14257 bp, 14252 bp, 14254 bp and 14856 bp, respectively. Most protein-coding genes (PCGs) were initiated with the common ATG codon and terminated with the TAA and TAG. We calculated Ka/Ks values for all 13 PCGs of Chromodorididae species, all ratios were less than 1, indicating selection by purification. Phylogenetic relationships were constructed by Bayesian inference (BI) and maximum likelihood (ML) methods based on all complete genomes of 50 species, primarily from the family Chromodorididae (Doridina) and 2 outgroups. This phylogenetic tree provided further additional references for the classification of the suborder Doridina. Gene rearrangement suggested a more conserved pattern of gene sequences in the superfamily Chromodoridoidea. These results and newly sequenced will contribute to a better understanding of Chromodorididae and provide reference for further phylogenetic studies.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High Expression of miR-218-5p in the Peripheral Blood Stream and Tumor Tissues of Pediatric Patients with Sarcomas.","authors":"Fazilet Yıldız Özdenoğlu, Demet Akdeniz Ödemiş, Seda Kılıç Erciyas, Şeref Buğra Tunçer, Büşra Kurt Gültaşlar, Ahmet Salduz, Sema Büyükkapu, Necat Vakur Olgaç, Rejin Kebudi, Hülya Yazıcı","doi":"10.1007/s10528-024-10873-8","DOIUrl":"https://doi.org/10.1007/s10528-024-10873-8","url":null,"abstract":"<p><p>Sarcomas are malignant tumors that may metastasize and the course of the disease is highly aggressive in children and young adults. Because of the rare incidence of sarcomas and the heterogeneity of tumors, there is a need for non-invasive diagnostic and prognostic biomarkers in sarcomas. The aim of the study was to investigate the level of miR-218-5p in peripheral blood and tumor tissue samples of Ewing's sarcoma, osteosarcoma, spindle cell sarcoma patients, and healthy controls, and assessed whether the corresponding molecule was a diagnostic and prognostic biomarker. The study was performed patients (n = 22) diagnosed and treated with Ewing's sarcoma and osteosarcoma and in a control group of 22 healthy children who were matched for age, gender, and ethnicity with the patient group. The expression level of miR-218-5p in RNA samples from peripheral blood and tissue samples were analyzed using the RT-PCR and the expression level of miR-218-5p was evaluated by comparison with the levels in patients and healthy controls. The expression level of miR-218-5p was found to be statistically higher (3.33-fold, p = 0.006) in pediatric patients with sarcomas and when the target genes of miR-218-5p were investigated using the bioinformatics tools, the miR-218-5p was found as an important miRNA in cancer. In this study, the miR-218-5p was shown for the first time to have been highly expressed in the peripheral blood and tumor tissue of sarcoma patients. The results suggest that miR-218-5p can be used as a diagnostic and prognostic biomarker in sarcomas and will be evaluated as an important therapeutic target.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the Performance of Frequentist and Bayesian Techniques in Genomic Evaluation.","authors":"Hamid Sahebalam, Mohsen Gholizadeh, Hasan Hafezian","doi":"10.1007/s10528-024-10842-1","DOIUrl":"https://doi.org/10.1007/s10528-024-10842-1","url":null,"abstract":"<p><p>The genomic evaluation process relies on the assumption of linkage disequilibrium between dense single-nucleotide polymorphism (SNP) markers at the genome level and quantitative trait loci (QTL). The present study was conducted with the aim of evaluating four frequentist methods including Ridge Regression, Least Absolute Shrinkage and Selection Operator (LASSO), Elastic Net, and Genomic Best Linear Unbiased Prediction (GBLUP) and five Bayesian methods including Bayes Ridge Regression (BRR), Bayes A, Bayesian LASSO, Bayes C, and Bayes B, in genomic selection using simulation data. The difference between prediction accuracy was assessed in pairs based on statistical significance (p-value) (i.e., t test and Mann-Whitney U test) and practical significance (Cohen's d effect size) For this purpose, the data were simulated based on two scenarios in different marker densities (4000 and 8000, in the whole genome). The simulated data included a genome with four chromosomes, 1 Morgan each, on which 100 randomly distributed QTL and two different densities of evenly distributed SNPs (1000 and 2000), at the heritability level of 0.4, was considered. For the frequentist methods except for GBLUP, the regularization parameter λ was calculated using a five-fold cross-validation approach. For both scenarios, among the frequentist methods, the highest prediction accuracy was observed by Ridge Regression and GBLUP. The lowest and the highest bias were shown by Ridge Regression and GBLUP, respectively. Also, among the Bayesian methods, Bayes B and BRR showed the highest and lowest prediction accuracy, respectively. The lowest bias in both scenarios was registered by Bayesian LASSO and the highest bias in the first and the second scenario were shown by BRR and Bayes B, respectively. Across all the studied methods in both scenarios, the highest and the lowest accuracy were shown by Bayes B and LASSO and Elastic Net, respectively. As expected, the greatest similarity in performance was observed between GBLUP and BRR ( <math><mrow><mi>d</mi> <mo>=</mo> <mn>0.007</mn></mrow> </math> , in the first scenario and <math><mrow><mi>d</mi> <mo>=</mo> <mn>0.003</mn></mrow> </math> , in the second scenario). The results obtained from parametric t and non-parametric Mann-Whitney U tests were similar. In the first and second scenario, out of 36 t test between the performance of the studied methods in each scenario, 14 ( <math><mrow><mi>P</mi> <mo><</mo> <mo>.</mo> <mn>001</mn></mrow> </math> ) and 2 ( <math><mrow><mi>P</mi> <mo><</mo> <mo>.</mo> <mn>05</mn></mrow> </math> ) comparisons were significant, respectively, which indicates that with the increase in the number of predictors, the difference in the performance of different methods decreases. This was proven based on the Cohen's d effect size, so that with the increase in the complexity of the model, the effect size was not seen as very large. The regularization parameters in frequentist methods should be optimized by cro","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141475630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"m6A-YTHDF1 Mediated Regulation of GRIN2D in Bladder Cancer Progression and Aerobic Glycolysis.","authors":"Meixian Le, Meiying Qing, Xiangju Zeng, Shunhua Cheng","doi":"10.1007/s10528-024-10875-6","DOIUrl":"https://doi.org/10.1007/s10528-024-10875-6","url":null,"abstract":"<p><p>The modification of N6-methyladenosine (m6A), primarily orchestrated by the reader protein YTHDF1, is a pivotal element in the post-transcriptional regulation of genes. While its role in various biological processes is well-documented, the specific impact of m6A-YTHDF1 on the regulation of GRIN2D, a gene implicated in cancer biology, particularly in the context of bladder cancer, is not thoroughly understood. Utilizing a series of bioinformatics analyses and experimental approaches, including cell culture, transfection, RT-qPCR, and western blotting, we investigated the m6A modification landscape in bladder cancer cells. The relationship between m6A-YTHDF1 and GRIN2D expression was examined, followed by functional assays to assess their roles in cancer progression and glycolytic activity. Our analysis identified a significant upregulation of m6A modification in bladder cancer tissues. YTHDF1 was found to regulate GRIN2D expression positively. Functionally, GRIN2D was implicated in promoting bladder cancer cell proliferation and enhancing aerobic glycolysis. Inhibition of the m6A-YTHDF1-GRIN2D axis resulted in the suppression of cancer progression and metabolic alterations. Through this research, we have elucidated the significant influence of the m6A-YTHDF1 axis on the modulation of GRIN2D expression, which in turn markedly impacts the progression of bladder cancer and its metabolic pathways, particularly aerobic glycolysis. Our findings uncover critical molecular dynamics within bladder cancer cells, offering a deeper understanding of its pathophysiology. Furthermore, the insights gained from this study underscore the potential of targeting the m6A-YTHDF1-GRIN2D pathway for the development of innovative therapeutic strategies in the treatment of bladder cancer.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141475631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TRIM8 Promotes Proliferation, Invasion, and Migration of Cervical Cancer Cells by Ubiquitinating and Degrading SOCS1.","authors":"Chunxiang Yu, Juan Wang, Yan Li","doi":"10.1007/s10528-024-10865-8","DOIUrl":"https://doi.org/10.1007/s10528-024-10865-8","url":null,"abstract":"<p><p>Cervical cancer (CC) is a malignant tumor primarily caused by the persistent infection with high-risk strains of human papillomavirus. This study investigates the aberrant expression of Tripartite Motif Containing 8 (TRIM8) in CC and its impact on cell proliferation, invasion, and migration. Expression levels of TRIM8, Proliferating Cell Nuclear Antigen, and Suppressor of Cytokine Signaling 1 (SOCS1) were assessed in CC cell lines. CC cells were transfected with si-TRIM8, followed by cell counting kit-8 (CCK-8) assay, colony formation assay, and Transwell assay. Protein immunoprecipitation assay was employed to examine TRIM8's binding with SOCS1, and the ubiquitination level of SOCS1 was determined after MG132 treatment. Rescue experiments were conducted using si-SOCS1 and si-TRIM8 in combination. Results indicate upregulation of TRIM8 in CC cells. Inhibition of TRIM8 suppressed cell viability, proliferation, invasion, and migration. TRIM8 promoted CC cell proliferation, invasion, and migration of CC cells through ubiquitination-mediated degradation of SOCS1. Inhibition of SOCS1 partially reversed the inhibitory effects of si-TRIM8 on the proliferation, invasion, and migration of CC cells. In conclusion, TRIM8 enhances CC cell proliferation, invasion, and migration via ubiquitination-mediated degradation of SOCS1.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141449297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring of miR-155-5p, miR-181b-5p, and miR-454-3p Expressions in Circulating Cell-Free RNA: Insights from Peripheral Blood of Uveal Malignant Melanoma Patients.","authors":"Hassani Masoumeh, Doğan Tunay, Ödemiş Akdeniz Demet, Tuncer Samuray, Yazıcı Hülya","doi":"10.1007/s10528-024-10849-8","DOIUrl":"https://doi.org/10.1007/s10528-024-10849-8","url":null,"abstract":"<p><p>The identification of novel non-invasive biomarkers is imperative for the early diagnosis and monitoring of malignant melanoma. The objective of this study is to examine the expression levels of miR-155-5p, miR-181b-5p, and miR-454-3p in circulating cell-free RNA obtained from plasma samples of the 72 uveal malignant melanoma patients and to compare these levels with those of 72 healthy controls. The analysis showed that the expression level of the miR-181b-5p has increased 9.25 fold, and expression level of miR-155-5p has increased 6.67 fold, and miR-454-3p expression level has increased 4.14 fold in the patient group compared with the levels in the healthy control group (p = 0.005). It was found that the high expression levels of the three miRNAs were statistically significant in patients compared with in the healthy control group. The statistical evaluations between miRNA expression levels and clinical data showed that miR-155-5p had significant association with radiation therapy (p = 0.040), and miR-454-3p showed a significant association with smoking and alcohol use respectively (p = 0.009, and p = 0.026). The significantly elevated expression levels of miR-181b-5p, miR-155-5p, and miR-454-3p in the circulating cell-free RNA of plasma from uveal melanoma patients, in comparison to those in the healthy control group, suggest the potential usefulness of these biomarkers for both early diagnosis and disease monitoring. However, more extensive and future studies are needed to use these molecules in early diagnosis and disease monitoring.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141445165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Peripheral Blood miRNA Expression in Patients with Essential Hypertension in the Han Chinese Population in Hefei, China.","authors":"Bin Cheng, Ronglu Yang, Hui Xu, Li Wang, Nan Jiang, Tingting Song, Changwu Dong","doi":"10.1007/s10528-024-10867-6","DOIUrl":"https://doi.org/10.1007/s10528-024-10867-6","url":null,"abstract":"<p><p>Primary hypertension is a significant risk factor for cardiovascular diseases. However, the pathogenesis of primary hypertension involves multiple biological processes, including the nervous system, circulatory system, endocrine system, and more. Despite extensive research, there is no clear understanding of the regulatory mechanism underlying its pathogenesis. In recent years, miRNAs have gained attention as a regulatory factor capable of modulating the expression of related molecules through gene silencing. Therefore, exploring differentially expressed miRNAs in patients with essential hypertension (EH) may offer a novel approach for future diagnosis and treatment of EH. This study included a total of twenty Han Chinese population samples from Hefei, China. The samples consisted of 10 healthy individuals and 10 patients with EH. Statistical analysis was conducted to analyze the general information of the two-sample groups. High-throughput sequencing and base identification were performed to obtain the original sequencing sequences. These sequences were then annotated using various databases including Rfam, cDNA sequences, species repetitive sequences library, and miRBase database. The number of miRNA species contained in the samples was measured. Next, TPM values were calculated to determine the expression level of each miRNA. The bioinformatics of the differentiated miRNAs were analyzed using the OECloud tool, and RPM values were calculated. Furthermore, the reliability of the expression was analyzed by calculating the area under the Roc curve using the OECloud tools. Statistical analysis revealed no significant differences between the two samples in terms of age distribution, gender composition, smoking history, and alcohol consumption history (P > 0.05). However, there was a notable presence of family genetic history and high BMI in the EH population (P < 0.05). The sequencing results identified a total of 245 miRNAs, out of which 16 miRNAs exhibited differential expression. Among the highly expressed miRNAs were let-7d-5p, miR-101-3p, miR-122-5p, miR-122b-3p, miR-192-5p, and miR-6722-3p. On the other hand, the lowly expressed miRNAs included miR-103a-3p, miR-16-5p, miR-181a-2-3p, miR-200a-3p, miR-200b-3p, miR-200c-3p, miR-221-3p, miR-30d-5p, miR-342-5p, and miR-543. This study initially identified 16 miRNAs that are aberrantly expressed and function in various processes associated with the onset and progression of essential hypertension. These miRNAs have the potential to be targeted for future diagnosis and treatment of EH. However, further samples are required to provide additional support for this study.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141436534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}