Biochemical Genetics最新文献_第4页

Association of NOS2A Gene Polymorphisms with Susceptibility to Tuberculosis in Manipuri Population of Northeast India. 印度东北部曼尼普尔人群NOS2A基因多态性与结核病易感性的关系

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-08 DOI: 10.1007/s10528-024-11015-w

Anupama Pandey, Heikrujam Nilkanta Meitei, Bidyarani Devi Konjengbam, Hamidur Rahaman, Reena Haobam

{"title":"Association of NOS2A Gene Polymorphisms with Susceptibility to Tuberculosis in Manipuri Population of Northeast India.","authors":"Anupama Pandey, Heikrujam Nilkanta Meitei, Bidyarani Devi Konjengbam, Hamidur Rahaman, Reena Haobam","doi":"10.1007/s10528-024-11015-w","DOIUrl":"https://doi.org/10.1007/s10528-024-11015-w","url":null,"abstract":"Single nucleotide polymorphisms (SNPs) have been reported to influence the activity of specific genes involved with the innate immune response to Mycobacterium; hence, they are crucial in tuberculosis (TB) susceptibility studies. The study aimed to investigate the polymorphism in the NOS2A (Nitric oxide synthase 2A) gene and its association with susceptibility to TB in the Manipuri population of northeast India. This case-control study includes 495 subjects- 220 TB patients and 275 control individuals. TaqMan allelic discrimination assay was used to study the gene polymorphism, and Griess's test was employed to determine the serum nitric oxide (NO) levels. Serum NO levels were analysed to correlate with the functional changes associated with the polymorphisms. Two SNPs of the gene, NOS2A (rs8078340 and rs2274894), were studied. For the SNP-rs8078340, a significant difference in the genotypic and allelic frequencies was observed between the cases and control groups (p = 0.001; AA genotype OR = 30.288, 95% CI: 1.703-538.44 and A allele OR = 2.937, 95% CI: 1.762-4.896). However, for the SNP-rs2274894, only the T allele (with OR = 1.464; 95% CI: 1.080-1.983, p = 0.014) was associated with susceptibility to TB. Serum levels of NO were significantly different between the cases and control groups (p < 0.05). Significant associations of both homozygous AA genotype and allele A of the NOS2A (rs8078340) and minor allele T of NOS2A (rs2274894) were observed with susceptibility to TB. Patients with the AA genotype of NOS2A show a higher NO level, suggesting its role in greater expression of the NOS2A gene.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942302","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}

引用次数: 0

Single-Nucleotide Polymorphisms in MMP3, TIMP1, and MTR Genes are Associated With Delayed Deciduous Tooth Eruption. MMP3、TIMP1和MTR基因的单核苷酸多态性与延迟乳牙萌出有关

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-08 DOI: 10.1007/s10528-024-11016-9

Barbara Alves Fonseca, Thaís de Oliveira Fernandes, Dalila Ferreira Silvano de Moura, Caio Luiz Bittencourt Reis, Erika Calvano Küchler, Flares Baratto-Filho, Leonardo Santos Antunes, Lívia Azeredo Alves Antunes

{"title":"Single-Nucleotide Polymorphisms in MMP3, TIMP1, and MTR Genes are Associated With Delayed Deciduous Tooth Eruption.","authors":"Barbara Alves Fonseca, Thaís de Oliveira Fernandes, Dalila Ferreira Silvano de Moura, Caio Luiz Bittencourt Reis, Erika Calvano Küchler, Flares Baratto-Filho, Leonardo Santos Antunes, Lívia Azeredo Alves Antunes","doi":"10.1007/s10528-024-11016-9","DOIUrl":"https://doi.org/10.1007/s10528-024-11016-9","url":null,"abstract":"To analyze whether the single-nucleotide polymorphisms (SNPs) in Matrix metalloproteinases 2, 3, and 9 (MMP2, MMP3, and MMP9), Tissue Inhibitor of Metalloproteinases 1 and 2 (TIMP1 and TIMP2), methionine synthase (MTR) and methionine synthase reductase (MTRR) influence delayed deciduous tooth eruption (DDTE). This cross-sectional study included 1060 biologic unrelated children (aged between 6 and 36 months) of both sexes, selected from 25 public schools in Nova Friburgo, Rio de Janeiro, Brazil. Oral examination was conducted and DDTE was defined by the absence of gingival eruption according to a chronology based on the Brazilian population. Genotyping of selected SNPs (rs243847, rs52261, rs17576, rs4898, rs7501477, rs1805087, and rs1801394) was performed using TaqMan real-time PCR with genomic DNA extracted from buccal cells. The association between genotypes and DDTE was evaluated using univariate and multivariate analyses (p < 0.05). A total of 224 children and caregivers were included after the eligibility criteria. The heterozygous genotype for the SNPs MTR (rs11805087) was associated with DDTE in both the univariate (p = 0.004) and multivariate (p < 0.001) codominant models, as well as in the univariate (p = 0.010) and multivariate (p = 0.001) recessive models. TIMP1 (rs4898) and MMP3 (rs522616) were associated with DDTE only in the univariate model (p < 0.05). The SNPs in MTR (rs11805087), MMP3 (rs522616) and TIMP (rs4898) genes are associated with DDTE. The factors affecting the chronology of deciduous tooth eruption has been insufficiently studied. This article brings novel knowledge regarding the role of genetics polymorphisms on timing variation of deciduous tooth eruption. Understanding the factors that impact tooth eruption is crucial for the fields of pediatric dentistry and orthodontics.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942385","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}

引用次数: 0

Identification of a Novel Immune-Gene Signature with Prognostic Value in Patients with Head and Neck Cancer: A Pilot Study. 鉴定一种具有头颈癌患者预后价值的新型免疫基因标记：一项初步研究。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-08 DOI: 10.1007/s10528-024-11017-8

Panagiota Batsaki, Sotirios P Fortis, Angelos D Gritzapis, Andriana Razou, Athanasios C Sakellaridis, Elisavet Grouzi, Dimitra Moschandreou, Michael I Koukourakis, Vassilios Zoumpourlis, Constantin N Baxevanis, Maria Goulielmaki

{"title":"Identification of a Novel Immune-Gene Signature with Prognostic Value in Patients with Head and Neck Cancer: A Pilot Study.","authors":"Panagiota Batsaki, Sotirios P Fortis, Angelos D Gritzapis, Andriana Razou, Athanasios C Sakellaridis, Elisavet Grouzi, Dimitra Moschandreou, Michael I Koukourakis, Vassilios Zoumpourlis, Constantin N Baxevanis, Maria Goulielmaki","doi":"10.1007/s10528-024-11017-8","DOIUrl":"https://doi.org/10.1007/s10528-024-11017-8","url":null,"abstract":"The tumor microenvironment has a significant input on prognosis and also for predicting clinical outcomes in various types of cancers. However, tumor tissue is not always available, thus, rendering peripheral blood a preferable alternative in the search for prognostic and predictive gene signatures. Head and neck squamous cell carcinoma (HNSCC) constitutes a quite heterogeneous disease characterized by poor prognosis. Therefore, the discovery of novel therapeutics based on prognostic gene signatures for effective disease governance is of paramount importance. In this study, we report for the first time an immune-gene signature identified in the peripheral blood of HNSCC patients comprising five genes (CLEC4C, IL23A, LCK, LY9, and CD19) which were more than threefold downregulated as compared to healthy individuals and were associated with poor prognosis. By performing analyses of HNSCC tumor samples from The Cancer Genome Atlas (TCGA) database, we discovered that decreased expression of these genes, both as single genes and as a 5-gene signature (5-GS), was significantly correlated with worse overall survival (OS). Our data show that the levels of expression of the 5-GS represent an immune profile predicting OS in patients with HNSCC.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942318","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}

引用次数: 0

HCG18 Promotes Cell Proliferation and Stemness in Cholangiocarcinoma via the miR-194-5p/KRT18/MAPK Signaling. HCG18通过miR-194-5p/KRT18/MAPK信号传导促进胆管癌细胞增殖和干细胞。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-08 DOI: 10.1007/s10528-025-11020-7

Guodong Tian, Lu Zuo, Jie Li, Xin Zheng, Feng Gao

{"title":"HCG18 Promotes Cell Proliferation and Stemness in Cholangiocarcinoma via the miR-194-5p/KRT18/MAPK Signaling.","authors":"Guodong Tian, Lu Zuo, Jie Li, Xin Zheng, Feng Gao","doi":"10.1007/s10528-025-11020-7","DOIUrl":"https://doi.org/10.1007/s10528-025-11020-7","url":null,"abstract":"Accumulating evidence has demonstrated that Keratin18 (KRT18) functions as a pivotal gene in the progression of various cancers. However, its role in cholangiocarcinoma (CCA) remains unexplored. Our study elucidated the biological functions and underlying mechanisms of KRT18 in CCA. Bioinformatic databases were used to identify potential miRNAs and lncRNAs. The cellular localization of KRT18 and lncRNA HCG18 was examined through subcellular fractionation. Expression levels of genes were assessed by qRT-PCR, while protein levels were measured via western blot. Cell viability was analyzed using CCK-8 assays. Colony formation and EdU assays assessed cell proliferation, and sphere formation assays evaluated stem cell properties. The interactions between HCG18, miR-194-5p, and KRT18 were explored through RNA immunoprecipitation, RNA pulldown, and luciferase reporter assays. A xenograft tumor model was conducted to evaluate the in vivo function. In CCA tissues and cell lines, KRT18 expression was elevated. Functionally, silencing KRT18 reduced cell proliferation and stemness and inhibited cell cycle. Mechanistically, miR-194-5p directly targeted KRT18. HCG18, which was upregulated in CCA, interacted with miR-194-5p. Overexpression of KRT18 negated the effects of HCG18 suppression on CCA cell proliferation and stemness. Activation of MAPK signaling reversed the antitumor effects of KRT18 downregulation on CCA in vitro. Moreover, HCG18 was found to activate MAPK signaling through the miR-194-5p/KRT18 pathway. The in vivo assay demonstrated that HCG18 knockdown inhibited tumor growth by the miR-194-5p/KRT18/MAPK axis. HCG18 can promote cell proliferation and stem cell characteristics in CCA through the miR-194-5p/KRT18/MAPK signaling.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142942315","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}

引用次数: 0

A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss. 一种新的GPR156纯合子功能丧失变体描述了非综合征性听力损失。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-06 DOI: 10.1007/s10528-024-11019-6

M Muaaz Aslam, Safdar Abbas, Shoaib Nawaz, Gohar Zaman, Ishtiaq Ahmed, Misbahuddin Rafeeq, Ziaullah M Sain, Alaa Hamed Habib, Muhammad Umair, Khadim Shah

{"title":"A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.","authors":"M Muaaz Aslam, Safdar Abbas, Shoaib Nawaz, Gohar Zaman, Ishtiaq Ahmed, Misbahuddin Rafeeq, Ziaullah M Sain, Alaa Hamed Habib, Muhammad Umair, Khadim Shah","doi":"10.1007/s10528-024-11019-6","DOIUrl":"https://doi.org/10.1007/s10528-024-11019-6","url":null,"abstract":"Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder accounting for almost 70% of the total congenital hearing loss. The implementation of rapid advanced sequencing methods has significantly contributed to the correct molecular diagnosis for several rare genetic disorders, including NHSL. Features of two probands with NHSL were clinically and genetically evaluated. One of the affected individuals was subjected to exome sequencing (ES) using standard methods. 3D protein modeling was performed to check the effect of mutation on the protein structure. ES data analysis revealed a homozygous nonsense variant [c.1144A > T; p.Lys382*] within the GPR156 gene (NM_153002.3) associated with rare NSHL. Sanger sequencing supported its recessive segregation within the family. The in silico predictions and 3D protein modeling further affirmed its disease-causing nature. The present study reported a nonsense variant in the GPR156 and its association with NSHL susceptibility, which requires further studies to unveil its key role and disease-related pathophysiology.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142930387","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}

引用次数: 0

APOM Modulates the Glycolysis Process in Liver Cancer Cells by Controlling the Expression and Activity of HK2 via the Notch Pathway. APOM通过Notch通路调控HK2的表达和活性调控肝癌细胞糖酵解过程

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-04 DOI: 10.1007/s10528-024-11013-y

Shuangqiu Du, Jingtong Wang, Miaomiao Liu, Rong Liu, Hui Wang, Yao Zhang, Fengcang Zhou, Wenjun Pei

{"title":"APOM Modulates the Glycolysis Process in Liver Cancer Cells by Controlling the Expression and Activity of HK2 via the Notch Pathway.","authors":"Shuangqiu Du, Jingtong Wang, Miaomiao Liu, Rong Liu, Hui Wang, Yao Zhang, Fengcang Zhou, Wenjun Pei","doi":"10.1007/s10528-024-11013-y","DOIUrl":"https://doi.org/10.1007/s10528-024-11013-y","url":null,"abstract":"The metabolic pathway of aerobic glycolysis in tumor cells has garnered significant attention in tumor research because of its high activation in cancer cells. Previous research conducted by our team has demonstrated that Apolipoprotein M (APOM) exhibits potential as a factor against liver cancer. However, further investigations are needed to elucidate the precise approach and mechanism that are involved in this process. The findings of this study demonstrated that the inhibition of APOM gene expression led to a notable increase in glucose uptake within liver cancer cells, along with increased levels of lactate dehydrogenase A (LDHA) mRNA and protein expression, as well as increased lactate and adenosine triphosphate (ATP) levels (P < 0.05). These alterations in the cellular microenvironment may be associated with a significant increase in the expression level and enzyme activity of the pivotal enzyme hexokinase 2 (HK2) (P < 0.05). Subsequent investigations revealed notable enrichment of the Notch pathway in liver cancer samples exhibiting low expression of the APOM gene. Western blot experiments demonstrated that the inhibition of APOM gene expression triggers the activation of the Notch pathway in liver cancer cells. Furthermore, the administration of a γ-secretase inhibitor (DAPT) successfully mitigated the increase in HK2 levels, glucose uptake, lactate production, and proliferation of liver cancer cells induced by the downregulation of the APOM gene (P < 0.05). In conclusion, diminished APOM expression may facilitate the progression of liver cancer by stimulating the aerobic glycolysis pathway, which is mediated by the Notch signaling pathway.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926175","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}

引用次数: 0

FAM107A Inhibits the Growth, Invasion and Aerobic Glycolysis of LUAD Cells by Regulating CRYAB/PI3K/AKT. FAM107A通过调节CRYAB/PI3K/AKT抑制LUAD细胞的生长、侵袭和有氧糖酵解。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-03 DOI: 10.1007/s10528-024-11006-x

Fei Ming, DaiPing Zhang

引用次数: 0

Diagnostic Value of Circulating microRNAs for Hepatocellular Carcinoma: Results of a Meta-analysis and Validation. 循环microrna对肝细胞癌的诊断价值：荟萃分析和验证的结果。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2025-01-03 DOI: 10.1007/s10528-024-11001-2

Bingqiang Zhang, Xiaoyan Ma, Yang Zhou, Boyang Zhu, Junmei Yu, He Liu, Yongchao Ma, Yansong Luan, Mengmeng Chen

{"title":"Diagnostic Value of Circulating microRNAs for Hepatocellular Carcinoma: Results of a Meta-analysis and Validation.","authors":"Bingqiang Zhang, Xiaoyan Ma, Yang Zhou, Boyang Zhu, Junmei Yu, He Liu, Yongchao Ma, Yansong Luan, Mengmeng Chen","doi":"10.1007/s10528-024-11001-2","DOIUrl":"https://doi.org/10.1007/s10528-024-11001-2","url":null,"abstract":"Mounting evidence suggests that circulating microRNAs (miRNAs) hold diagnostic value in various malignancies. To identify circulating miRNAs for the early diagnosis of hepatocellular carcinoma (HCC), we conducted a meta-analysis to evaluate the diagnostic utility of miRNAs in HCC and further validated the results of the meta-analysis. English articles published prior to December 2023 were retrieved from databases including PubMed, Embase, and Web of Science. A random-effects or fixed-effects model was applied depending on the heterogeneity among studies. The pooled sensitivity, specificity, and the area under the summary receiver operating characteristic curve (AUC) were calculated to assess diagnostic accuracy. Additionally, RT-qPCR and receiver operating characteristic (ROC) analyses were employed to further validate the findings. A total of 36 studies were included, involving 3362 patients with HCC and 2150 patients with chronic hepatitis. The pooled sensitivity, specificity, and diagnostic odds ratio were 0.79 (95% CI 0.75-0.82), 0.79 (95% CI 0.73-0.84), and 14 (95% CI 9-22), respectively; the positive and negative likelihood ratios were 4.0 and 0.27, respectively; the area under the curve (AUC) in the summary receiver operating characteristic (ROC) was 0.85 (95% CI 0.82-0.88). Validation indicated a significant upregulation of miR-1246, miR-21, and miR-221 in HCC patients compared to those with chronic hepatitis (P < 0.01), while miR-122 and miR-26a were significantly downregulated (P < 0.01). Moreover, the validation results also demonstrated that serum levels of miR-21, miR-26a, miR-122, miR-221, and miR-1246 exhibit high sensitivity and specificity in the diagnosis of HCC. Circulating miRNAs may be promising biomarkers for HCC diagnosis.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142919002","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}

引用次数: 0

Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance. 用短串联重复序列评分作为多基因遗传模型估计慢性病一级亲属遗传风险。

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2024-12-29 DOI: 10.1007/s10528-024-11003-0

Xia Qi, Anwar Ullah, Weijian Yu, Xiaojun Jin, Hui Liu

{"title":"Estimating the Genetic Risk of First-Degree Relatives for Chronic Diseases Using the Short Tandem Repeat Score as Model of Polygenic Inheritance.","authors":"Xia Qi, Anwar Ullah, Weijian Yu, Xiaojun Jin, Hui Liu","doi":"10.1007/s10528-024-11003-0","DOIUrl":"https://doi.org/10.1007/s10528-024-11003-0","url":null,"abstract":"This study aims to establish a genetic risk assessment model based on a score of short tandem repeats (STRs) of polygenic inheritance. A total of 396 children and their biological parents were collected for STR genotyping. The numbers of tandem repeats of two alleles in one STR locus were assumed to be a quantitative genetic strength for disease incidence. The sums of 19 STR loci were considered a quantitative genetic strength per individual. Various thresholds of the STRs between paternal, maternal, and childhood data were recorded. As an exemplar, for thresholds of 25%, the first quarter = 1. All other samples = 0. The consistency rate for heredity (CH) was calculated from the difference in the morbidity of children between parents with and without disease groups. The ratio of observed CH to expected CH was defined as the heredity index (HI). Actual Pedigree data (finger-crossing test) confirmed the accuracy of the STR score. The genetic risk of first-degree relatives could be estimated using easily acquired data (incidence in an unrelated population). Our findings can provide a polygenic genetic model for estimating the incidence and genetic risk of chronic disease in first-degree relatives.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891302","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}

引用次数: 0

miR-432-5p Targeting SORT1 to Protect Artery Smooth Muscle Cells and Inhibit Coronary Artery Disease. 靶向SORT1的miR-432-5p保护动脉平滑肌细胞并抑制冠状动脉疾病

IF 2.1 4区生物学

Biochemical Genetics Pub Date : 2024-12-28 DOI: 10.1007/s10528-024-10998-w

Jinhe Chen, Fan Liu, Xianwei Meng

{"title":"miR-432-5p Targeting SORT1 to Protect Artery Smooth Muscle Cells and Inhibit Coronary Artery Disease.","authors":"Jinhe Chen, Fan Liu, Xianwei Meng","doi":"10.1007/s10528-024-10998-w","DOIUrl":"https://doi.org/10.1007/s10528-024-10998-w","url":null,"abstract":"Recent studies highlight the crucial role of microRNAs (miRNAs) in coronary artery disease (CAD). This retrospective study investigated the abundance of miR-432-5p in the serum of CAD patients and explored its role. 252 volunteers were included. The levels of miR-432-5p and Sortilin 1 (SORT1) in the serum of CAD patients and oxidized low-density lipoprotein (ox-LDL)-treated human arterial smooth muscle cells (HASMCs) were quantified via qRT-PCR. The correlation coefficient, clinical diagnostic performance, and risk factors were analyzed with Pearson correlation, receiver operating characteristic (ROC) curve, and binomial logistic regression, respectively. HASMC proliferation, migration, and apoptosis were evaluated using Cell Counting Kit-8 (CCK-8), transwell, and flow cytometry assay, respectively. Potential binding sites between miR-432-5p and SORT1 were predicted with TargetScan and validated through dual-luciferase reporter assay and co-transfection experiments. Serum miR-432-5p was decreased, while SORT1 was elevated in CAD patients and ox-LDL-induced HASMCs. miR-432-5p showed a negative correlation with total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), C-reactive protein (CRP), and Gensini score. miR-432-5p and SORT1 effectively distinguished CAD patients from controls based on ROC analysis. miR-432-5p and SORT1 serve as independent risk predictors. Restoration of miR-432-5p reversed ox-LDL-induced increases in HASMC proliferation and migration and restored apoptosis levels. SORT1 was confirmed as a direct target of miR-432-5p, and its upregulation counteracted the protective effects of miR-432-5p on HASMC under ox-LDL exposure. This study suggests that miR-432-5p protects HASMCs and inhibits coronary artery disease progression by targeting SORT1, positioning both miR-432-5p and SORT1 as potential biomarkers for CAD.","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891285","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}

引用次数: 0