Human Gene最新文献

{"title":"Evaluation of the expression of miRNA-214 and circ-0005407 markers and their associated ZFAND3 gene in Oral squamous cell carcinoma","authors":"Emad Bakhshi ,&nbsp;Maedeh Ghorbanpour ,&nbsp;Maliheh Entezari ,&nbsp;Maryam Jolehar","doi":"10.1016/j.humgen.2024.201319","DOIUrl":"10.1016/j.humgen.2024.201319","url":null,"abstract":"<div><h3>Background and objective</h3><p>Cancer biomarkers serve as measurable indicators for the early detection of cancer, as they can be detected in sample tissues. They play a crucial role in optimizing decision-making in clinical practice. To advanve in this field, it is necessary to identify of markers with higher sensitivity, specificity, and positive predictive value. Therfore, wer have chosen to investigate the expression of multiple biomarkers simultaneously in oral squamous cell carcinoma.</p></div><div><h3>Materials and methods</h3><p>In this experimental study, we investigated the expression levels of miRNA-214, circ-0005407, and ZFAND3 genes using the quantitative RealTime PCR method. The samples examined included 30 samples of fresh cancerous tissue and adjacent normal tissue obtained from the Cancer Institute of <em>Imam</em> Khomeini Hospital. The data were analyzed using the dependent samples <em>t</em>-test and ANOVA test.</p></div><div><h3>Findings</h3><p>The mean CT values of circ-0005407, miRNA-214, and ZFAND3 in the cancerous and normal groups were (15.48 ± 1.62 &amp; 13.23 ± 1.63), (16.64 ± 1.51 &amp; 13.21 ± 1.29), and (14.41 ± 1.07 &amp; 16.72 ± 1.28), respectively. There was a statistically significant difference in the expression levels of all markers in the two investigated groups (P˂0.05). The fold change levels in circ-0005407, miRNA-214, and ZFAND3 gene markers were (0.51,0.22,6.34) respectively, indicating an increase in gene expression in cancerous tissue compared to normal. However, the other two markers showed decreased expression in cancerous tissue compared to normal tissue.</p></div><div><h3>Conclusion</h3><p>Based on the data obtained regarding the change in expression levels of these markers in cancerous tissue compared to normal tissue, it seems that these biomarkers can be used in the early diagnosis of oral cancer.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201319"},"PeriodicalIF":0.5,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141949713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutational analysis and prediction of the potential impact of missense mutations in the HOXA9 gene in B-cell acute lymphoblastic leukemia","authors":"Narges Khammar,&nbsp;Mohammad Mehdi Heidari,&nbsp;Mehri Khatami,&nbsp;Roghayeh Shahshahani","doi":"10.1016/j.humgen.2024.201318","DOIUrl":"10.1016/j.humgen.2024.201318","url":null,"abstract":"<div><p><em>Background</em>: The <em>HOXA9</em> gene is an essential gene during the developmental stages of the embryo, and its mutations can result in different phenotypes in both fetal and adult life. Additionally, this gene encodes a transcription factor that plays a crucial role in hematopoietic processes. Deregulation of these pathways has been reported in some leukemia cases. This <em>in-silico</em> analysis aims to evaluate the pathogenic effect of missense mutations in the <em>HOXA9</em> gene by utilizing various bioinformatics tools.</p><p><em>Methods</em>: From dbSNP NCBI, 288 non-synonymous/missense mutations of the <em>HOXA9</em> gene have been obtained. These missense mutations' functional impact was analyzed using various bioinformatics tools, including SIFT, Polyphen-2, PROVEAN, I-Mutant, PHD-SNP, and SNP&amp;GO. Additionally, their structural impacts were investigated using Netsurf P-2.0, HOPE, ConSurf, and PyMOL. Furthermore, the analysis of protein hydrophobicity changes was examined using PEPTIDE 2.0 and ExPASy web tools.</p><p><em>Results</em>: Out of the 288 non-synonymous mutations, 45 mutations have been identified as functional genetic variants that affect the structure and stability of the HOXA9 protein. According to the analysis, 10 out of the 45 missense mutations were more likely to be involved in changing the characteristics of the protein. These changes include absolute and relative solvent accessibility (ASA, RSA), classification secondary structure, surface accessibility, noncovalent interactions, and protein conformation.</p><p><em>Conclusion</em>: Based on the results of this <em>in-silico</em> study, high-risk deleterious missense mutations have been predicted in the <em>HOXA9</em> gene. These mutations may be potential candidates for future experimental investigations in various hematologic malignancy conditions.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201318"},"PeriodicalIF":0.5,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141732114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline mutations of the putative tumor suppressor gene PTEN/MMAC1 as molecular biomarker in prostate cancer","authors":"Kawtar Aboulalaa ,&nbsp;Abdelilah Laraqui ,&nbsp;Reda Tagajdid ,&nbsp;Khalid Ennibi ,&nbsp;Moulay Mustapha Ennaji","doi":"10.1016/j.humgen.2024.201316","DOIUrl":"10.1016/j.humgen.2024.201316","url":null,"abstract":"<div><p>The phosphatase and tensin homolog gene (PTEN) is a key tumor suppressor gene, which signals down the phosphoinositol-3-kinase/Akt pathway and affects cell cycle arrest and apoptosis. Alteration and mutation of the PTEN gene have been found in several types of tumors, including prostate cancer. Germline mutations of this gene are associated with the PTEN Hereditary Tumor Syndromes (PHTS), a hereditary overgrowth and cancer predisposition disorder. The present study aimed to determine whether germline alterations in exon 5 of the PTEN gene could be detected in the blood of men known to have prostate cancer, in order to uncover any aberrations that affect this key gene, which is likely involved in the cancer process.</p><p>Forty-eight blood samples from men diagnosed with prostate cancer were analyzed for germline mutations in the PTEN and confirmed by Sanger sequencing. The Sanger sequencing results revealed that 69% of the population carries mutations, including several new mutations and known mutations. The Frameshift mutations: c.459delT variant was detected with a frequency of 12.5%, and four frameshift variants were observed with frequencies of 8% each: c.304delA, c.338delG, c.439_440insG, c.457delG. For the missense mutations, the most frequent variant was c.473 T &gt; C (p.Val158Ala), recorded in four patients (8%), while the variants c.361G &gt; C (p.Ala121Pro) was detected in 6% of the population. There was no significant difference between mutation carriers and non-carriers regarding clinicopathological features. Our results provide insight into novel mutations identified in the PTEN gene in prostate cancer. This presents a new opportunity to focus on and highlight key genes for clinical exploration as potential biomarkers in the diagnosis and management of prostate cancer.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201316"},"PeriodicalIF":0.5,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141636657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"VDR polymorphism and its correlation with chronic periodontitis – An updated meta – Analysis","authors":"Santhi Priya Sobha","doi":"10.1016/j.humgen.2024.201317","DOIUrl":"10.1016/j.humgen.2024.201317","url":null,"abstract":"<div><p>The scientific evidences suggest that the common polymorphism in vitamin D receptors (VDR) such as <em>Apa</em>I (rs7975232), <em>Bsm</em>I (rs1544410), TaqI (rs731236), and <em>Fok</em>I (rs2228570) may influence the risk of chronic periodontitis (CP) however the existing studies have inconclusive results. The present current aim to perform a meta – analysis of the published studies to determine the association of VDR polymorphism with CP susceptibility. An extensive literature search was conducted on various database to find the relevant studies and the crude odds ratio (OR) with 95% confidence interval was calculated. Twenty-two case control studies were included in the study with 2083 cases and 2013 control for TaqI, 989 cases and 722 control for <em>Fok</em>I, 1240 cases and 1026 control for <em>Bsm</em>I and 972 cases and 961 control for <em>Apa</em>I polymorphism. The overall analysis reported an increased association of CP with the <em>Fok</em>I only under dominant model [1.42 (1.12–1.79); 0.002]. The other polymorphism - <em>Apa</em>I, <em>Bsm</em>I, and TaqI did not report any significant association in the overall analysis however <em>Bsm</em>I and TaqI was associated with CP risk in subgroup analysis. The TaqI polymorphism showed an increased risk of developing CP in African population under allelic [2.00(1.09–3.65)0.024], recessive [10.21 (1.25–82.8)0.029], homozygous [13.75 (1.54–122.0)0.018] and heterozygous [8.80 (1.06–73.0) 0.04] model however the association cannot be concluded as there were fewer studies. The presence of mutant allele of <em>Bsm</em>I polymorphism demonstrated a reduced risk of developing CP among Asian under recessive [0.54 (0.29–0.99)0.047] and homozygous [0.49 (0.25–0.94) 0.034] model. The meta – analysis indicate the association of major VDR polymorphism with the development of CP is population specific.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201317"},"PeriodicalIF":0.5,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141622921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of circulating micro-RNAs (miR-21-5p and miR-142-3p (and tumor necrosis factor-α with Rheumatoid Arthritis","authors":"Rashad Ayad Al-Heety ,&nbsp;Kismat M. Turki","doi":"10.1016/j.humgen.2024.201315","DOIUrl":"https://doi.org/10.1016/j.humgen.2024.201315","url":null,"abstract":"<div><p>Micro-RNAs (miRNAs) become a promising biomarker for diagnosis due to their stability and reproducibility and could be help to find a new effective treatment. This study is designed to evaluate the diagnostic utility and clinical significance of circulating micro-RNAs (miR-21-5p and miR-142-3p (and tumor necrosis factor-α (TNF-α) for patient with RA and to assess their correlation with disease activity. This case control study involved sixty patients and 30 apparently healthy subjects as control group. The diagnosis was done depending on the classification criteria of American college of rheumatology-European league against rheumatism (ACR- EULAR). Expression levels of circulating miRNA were determined by two step reversed transcription polymerase chain reactions (RT- PCR). The concentrations of TNF-α, anti-citrullinated protein antibodies(ACPA) and C- reactive protein(CRP) were estimated by Enzyme linked immune-sorbent assay technique (ELISA). The expression level of circulating miRNA- 21- 5p and miRNA - 142- 3p was significantly elevated (P &lt;0.01) in patients group as well as the levels of blood ESR, serum CRP, ACPA, and TNF-α compared to controls. There are significant differences (P &lt; 0.01) in miRNA- 21- 5p levels between different patients groups, while the expression of miR-142-3p show non-significant difference (p&gt;0.05). It is found that miRNA- 21-5p expression levels are significantly correlated with RA activity. Both miR-21-5p and miR-142-3p have significant positive correlation with levels of CRP, ACPA, and TNF-α. The level of TNF-α have significant positive correlation with both of CRP and ACPA also with the DAS-28 and CDAI. In conclusion, circulating miR-21- 5p and miRNA - 142- 3p may be associated to RA pathogenesis due to their positive correlation with inflammatory cytokine TNF-α, CRP and ACPA, therefore these miRNAs might be considered new targets for RA treatment, and alterations in their expression could be used for diagnosis and monitoring the disease activity and treatment response.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201315"},"PeriodicalIF":0.5,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141607607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of miRNA 130a-3P and miRNA 301a-3P in Egyptian patients with urinary bladder carcinoma","authors":"Eman M. Abd El Gayed ,&nbsp;Maha A.F. Hamouda ,&nbsp;Soaad M. Elsobky ,&nbsp;Suzy F. Gohar ,&nbsp;Shaimaa Elsayed Ramadan Genena","doi":"10.1016/j.humgen.2024.201313","DOIUrl":"10.1016/j.humgen.2024.201313","url":null,"abstract":"<div><h3>Objectives</h3><p>To study the role of <em>microRNA 130a-3p</em> and <em>microRNA 301a-3p</em> in urinary bladder carcinoma.</p></div><div><h3>Background</h3><p>Despite the discovery of several clinical and molecular indicators for predicting outcomes in bladder cancer, it is unclear how to use these indicators in clinical practice. A recent study revealed that the miR-130 family may play a vital role in the occurrence and development of BC by regulating signal pathways through various target genes. We intend to apply them as novel, nonintrusive, and easily detectable bladder cancer indicators.</p></div><div><h3>Subjects and methods</h3><p>The current study involved one hundred subjects. Fifty subjects had bladder cancer diagnosed by cystoscope biopsy and histopathological examination, and the other fifty were age- and gender-matched healthy adults serving as a control group. All participants were subjected to complete history taking through medical examination and estimation of expression levels of plasma <em>miRNA 130a-3p</em> by reverse transcriptase – polymerase chain reaction (RT-PCR) through quantitative real-time technique.</p></div><div><h3>Results</h3><p><em>miRNA 130a-3p</em> and <em>miRNA 301a-3p</em> were expressed at higher levels in the plasma of bladder cancer patients than in the controls. The points for the diagnostic capacities of <em>miR 130a-3p</em> and miR <em>301a-3p</em> for bladder cancer were &gt; 0.921 and &gt; 1.32, respectively, indicating that they are potential clinical diagnostic biomarkers for bladder cancer with good sensitivity and specificity. Moreover, stage IIIA versus stage IIIB can be discriminated as &gt;0.96 (miR 130a-3p) and &gt; 2.48 (miR 301a-3p), which can be utilized for estimating the clinical prognosis of bladder cancer.</p></div><div><h3>Conclusion</h3><p><em>miRNA 130a-3p</em> and <em>miRNA 301a-3p</em> expression levels in plasma can differentiate bladder cancer patients from healthy controls and discriminate between stage IIIA and stage IIIB. This finding may facilitate the clinical diagnosis of bladder cancer.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201313"},"PeriodicalIF":0.5,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141962347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of long noncoding RNA and mRNA profiling in peripheral blood mononuclear cells of human immunized with rabies virus vaccine by RNA sequencing","authors":"Yanyan Zhu ,&nbsp;Xianzhu Xia ,&nbsp;Hao Feng ,&nbsp;Pingsen Zhao","doi":"10.1016/j.humgen.2024.201314","DOIUrl":"https://doi.org/10.1016/j.humgen.2024.201314","url":null,"abstract":"<div><h3>Background</h3><p>The rabies virus (RABV) continues to be the deadly cause of rabies and to be a hazard to international health. The specific epigenetic modifications in the host response to RABV vaccination have not been fully elucidated. While long noncoding RNAs (lncRNAs) are known to play crucial roles in viral infection control, their specific expression profiles in humans vaccinated against RABV have not been clearly defined.</p></div><div><h3>Methods</h3><p>This study investigated the lncRNAs and mRNAs expression profiles in four volunteers vaccinated with the RABV vaccine using high-throughput RNA sequencing.</p></div><div><h3>Results</h3><p>We have discovered 33 lncRNAs and 427 mRNAs that exhibited differential expression after RABV vaccination. The functional annotation, utilizing gene ontology and Kyoto Encyclopedia of Genes and Genomes pathways, revealed that these lncRNAs are involved in signaling pathways that enhance host immune response to RABV vaccination.</p></div><div><h3>Conclusions</h3><p>Our findings indicate that these lncRNAs, via influencing host immune response, could be explored as potential therapeutic targets in treatments against RABV infection. To the best of our knowledge, it is the first time to report the transcriptome landscape of lncRNAs in human immunized with RABV vaccine.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201314"},"PeriodicalIF":0.5,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141485713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human TMPRSS2 and ACE2 genetic variability on COVID-19 outcomes in patients from Brazil","authors":"Felipe Pantoja Mesquita ,&nbsp;Jean Breno Silveira da Silva ,&nbsp;Lais Lacerda Brasil de Oliveira ,&nbsp;Luina Benevides Lima ,&nbsp;Pedro Filho Noronha Souza ,&nbsp;Emerson Lucena Silva ,&nbsp;Silviane Praciano Bandeira ,&nbsp;Ludmilla Aline Guimarães Moreira Farias ,&nbsp;Clarisse Mourão Melo Ponte ,&nbsp;Maria Helane Costa Gurgel Castelo ,&nbsp;Lilian Loureiro Albuquerque Cavalcante ,&nbsp;Caroline de Fatima Aquino Moreira Nunes ,&nbsp;Maria Elisabete Amaral de Moraes ,&nbsp;Raquel Carvalho Montenegro","doi":"10.1016/j.humgen.2024.201310","DOIUrl":"https://doi.org/10.1016/j.humgen.2024.201310","url":null,"abstract":"<div><p>Angiotensin-converting enzyme 2 (ACE2) and the transmembrane serine protease 2 (TMPRSS2) are recognized as entry proteins of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and recently their Single Nucleotide Polymorphisms (SNP) have been studied in different populations to elucidate the impact on disease. This study aimed to evaluate the genetic SNP of ACE2 (rs35803318) and TMPRSS2 (rs2070788) genes in COVID-19 patients from Northeast Brazil compared with global populations, as well as the expression quantitative trait locus (eQTL). For ACE2 (rs35803318), we found 92.6% CC, 3.4% CT, and 4.0% TT genotype carriers in SARS-CoV-2-positive patients. Surprisingly, only the genotype frequencies of ACE2 SNP were not in Hardy-Weinberg equilibrium. For TMPRSS2 rs2070788, we found 22.3% GG, 50.7% AG, and 27% AA genotype carriers in SARS-CoV-2-positive patients. The expression quantitative trait loci (eQTLs) revealed that rs35803318 was associated with an altered <em>PIR</em> gene expression, and rs2070788 was found to eQTLs association only with lung tissue. No significant association was identified between the genotype distribution of SNPs and the ‘patient's outcome. In conclusion, our results suggest that <em>ACE2</em> and <em>TMPRSS2</em> may not be protective factors for global populations, including the Brazilian population, since the presence of SNPs does not affect the ‘patient's outcome as described by other studies.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201310"},"PeriodicalIF":0.5,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141540129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beclin1, Atg10 and Atg7 genes expressions as autophagy mediators in acute B-lymphoblastic leukemia","authors":"Seyedeh Zahra Hasanpour ,&nbsp;Mehdi Allah Bakhshian ,&nbsp;Mohammad Hossain Mohammadi ,&nbsp;Seyyedeh Ommolbanin Ghasemian ,&nbsp;Majid Gholami-Ahangaran","doi":"10.1016/j.humgen.2024.201311","DOIUrl":"https://doi.org/10.1016/j.humgen.2024.201311","url":null,"abstract":"<div><p>Acute lymphoblastic leukemia (ALL), manifested by the rapid proliferation of blasts in the bone marrow, is the most prevalent pediatric malignancy; however, it could also be detected in the adults. Autophagy is a programmed catabolic process involved in the maintenance of cell homeostasis through destruction of damaged organs and misfolded proteins. Disruption of autophagy leads to abnormalities in cellular processes associated with cancer and acts as a double-edged sword. Although in a number of cancers, the suppression of autophagy resulted in a tumorigenesis process, in other types of this disease, the activation of this process may participate in the maintenance of cell survival. In this study, we evaluated the expression of Beclin1, Atg7 and Atg10 genes in 50 patients diagnosed with de novo B-ALL in comparison with 18 healthy counterparts using relative-quantitative real time-PCR. The majority of B-ALL patients showed a significant reduction in the expression of aforementioned genes as compared to the control group (<em>P</em> &lt; 0.05). Moreover, we found a positive correlation between Beclin1 and Atg7 expression level in the patients (<em>P</em> &lt; 0.001 and <em>r</em> = 0.57). These findings suggested that probably any disruption in the regulation of autophagy could be involved in leukemogenesis and thereby autophagy could be regarded as a valuable therapeutic target to eliminate the leukemic cells.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201311"},"PeriodicalIF":0.5,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141541558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uncovering the regulatory roles of miR-4319 in tumour progression","authors":"Zhi Xiong Chong","doi":"10.1016/j.humgen.2024.201312","DOIUrl":"https://doi.org/10.1016/j.humgen.2024.201312","url":null,"abstract":"<div><p>MicroRNA (miRNA) is a small and non-coding RNA that can control the post-transcriptional expressions of many downstream targets. Several <em>in vitro</em>, <em>in vivo</em>, and clinical studies have reported the putative tumour-modulatory roles of miR-4319 in multiple human cancers. However, an effective review article that could summarize the findings of the tumour-regulatory functions of miR-4319 in human cancers is scarce. To bridge the gap in the literature, this review aimed to unravel the tumour-regulatory roles of miR-4319 by integrating the findings from various original research articles. Overall, miR-4319 is underexpressed in at least 14 human cancers, suggesting its downregulation is linked to cancer progression. Further analyses of the data from various literatures showed that besides influencing the translational repression of different downstream targets, miR-4319 could also interact with seven types of long non-coding RNA (lncRNA) (LINC00667, HOXA-AS3, CPLC, GNAS-AS1, DANCR, PCAT18, and TNK2-AS1) and two types of circular RNA (circRNA) (circATXN7 and circ_0058058). Dysregulation of these interactions can facilitate cancer development. Considering the observations that miR-4319 is downregulated in many cancer types, it has a promising role to be employed as a diagnostic biomarker. Besides, the upregulation of miR-4319 is also associated with good clinical outcomes in colorectal, liver, and prostate cancers, making miR-4319 a potential candidate as a prognostic biomarker. Additionally, overexpressing miR-4319 could potentially help slow cancer progression. Although miR-4319 has the potential to be utilized as a biomarker or therapeutic agent, more future studies, including clinical trials with a scale-able sample size, should be conducted to validate the accuracy, reliability, safety, sensitivity, and specificity of miR-4319 as a biomarker or therapeutic agent.</p></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"41 ","pages":"Article 201312"},"PeriodicalIF":0.5,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141541561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}