International Journal of Molecular and Cellular Medicine最新文献

{"title":"Has_circ_0008285/miR-211-5p/SIRT-1 Axis Suppress Ovarian Cancer Cells Progression.","authors":"Khadijeh Elmizadeh, Ali Homaei, Ensiyeh Bahadoran, Farzaneh Abbasi, Sahar Moghbelinejad","doi":"10.22088/IJMCM.BUMS.12.4.401","DOIUrl":"10.22088/IJMCM.BUMS.12.4.401","url":null,"abstract":"<p><p>The significant functional role of circular RNAs (circRNAs) in the progression of malignant tumors, including ovarian cancer, has been shown in various studies. In this study, we aimed to investigate the abnormal expression of hsa_circ_0008285 and its role in ovarian cancer pathogenesis. Quantitative real time polymerase chain reaction (qRT-PCR) and Western blot methods were used to detect the expression of hsa_circ_0008285 and some target genes in ovarian cancer tissues and related cell lines. To determine the functional roles of hsa_circ_0008285 in ovarian cancer, cell proliferation, apoptosis, and cell invasion assays were performed. Bioinformatics (Target scan, circ intractome) and luciferase reporter analyses were used to predict target genes. Results: In the present study, we first found that hsa_circ_0008285 was up regulated in ovarian cancer tissues and related cell lines. Bioinformatics, experimental data, and luciferase reporter analysis data showed miR-211-5p is a direct target of hsa_circ_0008285, while SIRT-1 is a direct target of miR-211-5p. Overexpression of hsa_circ_0008285 in cancer cells increased the expression of SIRT-1 and progression of cancer cells. Based on these results, inhibition of hsa_circ_0008285 expression could cause upregulation of miR-211-5p and down regulation of SIRT-1 and inhibited the proliferation and invasion of ovarian cancer cells. Conclusion: The results of the present study revealed that hsa_circ_0008285 suppressed ovarian cancer progression by regulating miR-211-5p expression to inhibit SIRT-1 expression.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 4","pages":"401-422"},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11240052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolation, Identification and Screening of Saharan Actinomycete Strain <i>Streptomyces fimbriatus</i> AC31 Endowed with Antimicrobial Activity.","authors":"Omar Khirennas, Slimane Mokrani, Belkacem Behira, Noureddine Bouras, El Hadj Driche, Ouahiba Moumen","doi":"10.22088/IJMCM.BUMS.12.1.51","DOIUrl":"10.22088/IJMCM.BUMS.12.1.51","url":null,"abstract":"<p><p>The increasing global public health concern of antimicrobial resistance (AMR) necessitates exploration of natural antimicrobial agents as potential alternatives. This study aimed to investigate antimicrobial activities of Saharan actinomycetes, with specific focus on the strain <i>Streptomyces fimbriatus</i> AC31, that holds promising potential as an alternative to combat AMR. In this context, 32 actinomycetes were isolated from El Atteuf (Ghardaïa), Algeria. Isolates obtained were characterized morphologically and biochemically. Screened isolate was identified by 16S rRNA gene sequencing. Classification of actinomycete isolates was carried out by UPGMA (Unweighted Pair Group Method with Arithmetic Mean). Then, they were screened for their antimicrobial activity by cross-streak method. Identification of 32 isolates revealed 5 genera: <i>Streptomyces</i> (65.63%), <i>Nocardia</i> (9.38%), <i>Streptosporangium</i> (9.38%), <i>Nocardiopsis</i> (9.38%) and <i>Actinomadura</i> (6.25%). According to the biochemical and physiological characteristics, UPGMA classified the isolates in 4 phenons. A number of 24 (75.00%) isolates were active against Gram-positive bacteria, 21 (65.63%) isolates were effective against Gram-negative bacteria, and 25 (78.13%) isolates inhibited <i>Candida albicans</i>. Screened strain <i>Streptomyces fimbriatus</i> AC31 showed highest antagonistic activity and revealed an inhibition zones of 41, 38, 41, 42, and 44 mm, against <i>B. subtilis</i> (ATCC 6633), <i>E. coli</i> (ATCC 8739), <i>S. typhimurium</i> (ATCC 13331), <i>S. aureus</i> (ATCC 6538) and <i>C. albicans</i> (ATCC 10231), respectively. Phylogenetic identification of the AC 31 isolate using 16S rRNA gene sequence showed similarity of 100% with <i>Streptomyces fimbriatus</i> NBRC 15411^T. Actinomycete isolates characterized in this study were endowed with antimicrobial activity against various pathogenic microorganisms that could be used efficiently in developing new antimicrobial substances.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 1","pages":"51-69"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Diagnosis of Alzheimer's Disease with Blood Test; Tempting but Challenging.","authors":"Fakhrossadat Farvadi, Fatemeh Hashemi, Azadeh Amini, Molood Alsadat Vakilinezhad, Mohammad Javad Raee","doi":"10.22088/IJMCM.BUMS.12.2.172","DOIUrl":"10.22088/IJMCM.BUMS.12.2.172","url":null,"abstract":"<p><p>The increasing prevalence of Alzheimer's disease (AD) has led to a health crisis. According to official statistics, more than 55 million people globally have AD or other types of dementia, making it the sixth leading cause of death. It is still difficult to diagnose AD and there is no definitive diagnosis yet; post-mortem autopsy is still the only definite method. Moreover, clinical manifestations occur very late in the course of disease progression; therefore, profound irreversible changes have already occurred when the disease manifests. Studies have shown that in the preclinical stage of AD, changes in some biomarkers are measurable prior to any neurological damage or other symptoms. Hence, creating a reliable, fast, and affordable method capable of detecting AD in early stage has attracted the most attention. Seeking clinically applicable, inexpensive, less invasive, and much more easily accessible biomarkers for early diagnosis of AD, blood-based biomarkers (BBBs) seem to be an ideal option. This review is an inclusive report of BBBs that have been shown to be altered in the course of AD progression. The aim of this report is to provide comprehensive insight into the research status of early detection of AD based on BBBs.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 2","pages":"172-210"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10837916/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolation of Cells and Exosomes from Glioblastoma Tissue to Investigate the Effects of Ascorbic Acid on the c-Myc, HIF-1α, and Lnc-SNHG16 Genes.","authors":"Masoumeh Eliyasi Dashtaki, Alireza Tabibkhooei, Sepideh Parvizpour, Ramin Soltani, Sorayya Ghasemi","doi":"10.22088/IJMCM.BUMS.12.2.135","DOIUrl":"10.22088/IJMCM.BUMS.12.2.135","url":null,"abstract":"<p><p>Glioblastoma multiforme (GBM) is incurable with routine treatments. Ascorbic acid (Asc) has antioxidant and anti-cancer properties. However, its specific anti-cancer mechanisms are only partially understood. In this study, the effect of Asc on the c-Myc, HIF-1α, and lnc-SNHG16 genes in GBM cells and their exosomes was investigated. Cells isolated from the tissue were characterized by the immunocytochemistry method (GFAP⁺). The cell-doubling time was determined, and FBS-free medium supplemented with Asc (5 mM) was added to the cells. The extracted exosomes in the cell culture medium were scanned by electron microscopy, Zetasizer, and BCA assay. The expression of lnc-SNHG16 in the exosomes and c-Myc and HIF-1α in the treated and control cells was evaluated by real-time PCR. The interactions between Asc and the c-Myc and HIF-1α proteins were studied using the molecular docking method. The cells showed 90-100% GFAP⁺ in passage 4, with a cell-doubling time of 4.8 days. Exosomal vesicles measuring 98.25-105.9 were observed. Zetasizer results showed a sharp pick at 90 nm. Protein quantitation showed 3.812 µg/ml protein in the exosomes. Lnc-SNHG16 expression was reduced (<i>P</i> = 0.041), and c-Myc was upregulated (<i>P</i> = 0.002). The expression of HIF-1α was not significant in the treated cells. Also, Asc was able to interact and affect c-Myc and HIF-1α. Asc exerts its effect by reducing lnc-SNHG16 expression in exosomes, upregulating c-Myc in GBM cells, and interacting with HIF-1α and c-Myc. Further research is necessary to achieve a full understanding of these findings.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 2","pages":"135-143"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10837911/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>In Silico</i> Molecular Docking of Phytochemicals for Type 2 Diabetes Mellitus Therapy: A Network Pharmacology Approach.","authors":"Sooriyakala Rani Sri Prakash, Sree Meenakshi Kamalnath, Arul Jayanthi Antonisamy, Sivasankari Marimuthu, Sankar Malayandi","doi":"10.22088/IJMCM.BUMS.12.4.372","DOIUrl":"10.22088/IJMCM.BUMS.12.4.372","url":null,"abstract":"<p><p>Identification of potential lead molecules in herbal medicines is crucial not only for validation but also for drug discovery. This study was focused on identifying the therapeutic mechanisms of 10 common herbs used to treat type 2 diabetes mellitus (T2DM) using network pharmacology and docking studies. Details pertaining to medicinal plants and their phytoconstituents were obtained from Indian Medicinal Plants, Phytochemistry, and Therapeutics and Dr. Duke's database, respectively. MolSoft was used to assess their drug likeness. Prediction of protein targets for the screened phytochemicals and the list of target genes involved in T2DM were obtained using Swiss TargetPrediction and GeneCards respectively. STRING; Cytoscape; Database for Annotation, Visualization, and Integrated Discovery; and PyRx were used for network construction, network analysis, gene ontology analysis, and molecular docking, respectively. The protein targets MAPK1, AKT1, PI3K, and EGFR were identified to play a crucial role in the progression of T2DM. Furthermore, molecular docking indicated that nimbaflavone exhibited high binding affinities for MAPK1 (-8.7 kcal/mole) and PI3K (-9.6 kcal/mole), whereas rutin and 10-hydroxyaloin-B showed high binding affinities for AKT1 (-7.4 kcal/mole) and EGFR (-8.1 kcal/mole), respectively. The findings from this study suggest that flavonoids are the major phytoconstituents that display antidiabetic activity by interacting with key protein molecules related to the MAPK and PI3K-AKT signaling pathways, thereby aiding in the treatment of T2DM. The activation of these pathways alters Ras-GTPase activity and enhances the expression of GLUT4, a glucose transporter, resulting in the uptake of glucose from the bloodstream.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 4","pages":"372-387"},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11240057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin.","authors":"Ajinkya Jadhav, Yamini Jadhav, Vidya Bhairi, Rukaiya Ansari, Premkumar Torane, Krutika Patil","doi":"10.22088/IJMCM.BUMS.12.1.81","DOIUrl":"10.22088/IJMCM.BUMS.12.1.81","url":null,"abstract":"<p><p>Triploidy is a lethal chromosomal abnormality. Fetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1:50. The study was performed on the amniotic fluid and peripheral blood samples received at the clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis using an amniotic fluid sample found a triploid fetus with unexpected balanced chromosomal translocation: 69, XXX,t(2;9)(q11.2;p22)x2. Later the origin of translocation was confirmed by parental chromosomal study. Cytogenetic analysis showed the presence of translocation involving chromosome 2 and 9 in the mother which confirms the maternal origin of translocation in fetal triploidy. Prenatal diagnosis of fetal triploidy with balanced translocation of maternal origin is a rare finding. In present study, the triploidy arises from the failure to expel the second polar body. It is important to perform prenatal fetal imaging with ultrasound at 18-22 weeks to identify any fetal anomalies or intrauterine growth retardation which is associated with triploidy.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 1","pages":"81-85"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10629721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stem Cell Therapy, the Market, the Opportunities and the Threat.","authors":"Mahshid Bahari, Hossein Mokhtari, Farshid Yeganeh","doi":"10.22088/IJMCM.BUMS.12.3.310","DOIUrl":"10.22088/IJMCM.BUMS.12.3.310","url":null,"abstract":"<p><p>Stem cell therapy is going to become the most widely used type of therapy in regenerative medicine. The stem cell therapy market has grown at an exponential rate in recent years. The purpose of the present paper is to review the stem cell market and the factors affecting it. The methods used included a literature review across reputable databases, and identifying articles and trusted financial reports related to the stem cell therapy market. Results show that the stem cell market growth rate is increasing, so that, the global stem cell market size was valued at US$297 million in 2022 and is anticipated to grow at a compound annual growth rate of 16.8% from 2022 to 2027, driven by factors such as clinical trials with promising results, increasing funding for stem cell research, growing number of technologies and facilities for cell therapy, and rising demand for regenerative medicine. However, the market also faces some challenges such as ethical concerns, regulatory hurdles, and the high cost of stem cell therapies and products. To enhance the development of the market further, policymakers and regulatory bodies must simplify the complicated process of obtaining regulatory approvals for clinical use. However, there are growing concerns about the increasing number of unapproved treatments using stem cells.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 3","pages":"310-319"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11092897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emergence of OptrA Gene Mediated Linezolid Resistance among Enterococcus Faecium: A Pilot Study from a Tertiary Care Hospital, India.","authors":"Vandana Rani, Ajit Prakash, Mohammad Amin-Ul Mannan, Priyanka Das, Hitha Haridas, Rajni Gaindaa","doi":"10.22088/IJMCM.BUMS.12.3.242","DOIUrl":"10.22088/IJMCM.BUMS.12.3.242","url":null,"abstract":"<p><p><i>E. faecium</i> is the third most common cause of nosocomial infections. Linezolid (LNZ) is a reserve antibiotic recommended for infections caused by vancomycin resistant <i>E. faecium</i> (VREfm).  The aim of the present study was to investigate the prevalence of <i>optrA</i> gene among linezolid resistant <i>E. faecium</i> (LREfm) and to study the molecular epidemiology using pulse field gel electrophoresis (PFGE). Clinically significant LREfm were identified and antimicrobial susceptibility was performed by disc diffusion. Minimum inhibitory concentration (MIC) of linezolid, vancomycin, daptomycin and quinupristin/dalfopristin was determined by E-test. PCR and PCR-RFPL were performed for the detection of <i>optrA/cfr</i> gene and G2576T mutation respectively. Molecular epidemiology was studied by PFGE. A total of 1081 clinically significant <i>Enterococci</i> species were isolated which included <i>E. faecium</i> 63.5% (n=687) and <i>E. faecalis</i> 36.5% (n=394). LREfm (30/687) were further studied. Multidrug resistance and <b>v</b>ancomycin resistance was 100% and 80%, respectively. Linezolid MIC range was 8-256µg/ml and the most common mechanism of resistance was <i>optrA</i> gene (83.3%) followed by G2576T mutation (33.3%). PFGE analysis demonstrated 4 major clones. The <i>optrA</i> gene mediated linezolid resistance was high and PFGE suggests resistance was emerging in the different background strains irrespective of resistance mechanism. Studies are required to investigate factors driving the emergence of linezolid resistance. The review suggests that this is the first report of <i>optrA-</i>mediated resistance in <i>E. faecium</i> from India.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 3","pages":"242-256"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11092898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stigmasterol- an Acetylcholinesterase Inhibitor from <i>Phormidium retzii</i> with relevance to Alzheimer's disease Therapy.","authors":"Rincy Yesudas, Vinoth Kumar Thirumalairaj, Geetharamani Durairaj, Amrutha Chacko, Lakshmanasenthil Shanmugaasokan, Suja Gunasekaran","doi":"10.22088/IJMCM.BUMS.12.2.100","DOIUrl":"10.22088/IJMCM.BUMS.12.2.100","url":null,"abstract":"<p><p>This study observed <i>in vitro</i> screening, purification and identification of cholinesterase inhibitors from the microalgae <i>Phormidium retzii</i>. Mixed microalgal culture was screened from freshwater samples for <i>Phormidium</i> sp. Single colony was purified and authenticated as <i>P. retzii</i>. Acetylcholinesterase (AChE) enzyme was purified from hRBC ghost. Sequential extraction of <i>P. retzii</i> was performed using organic solvents. Cholinesterase enzyme activity and its inhibition by various extracts were then tested. The active fractions were then subjected to partial purification and characterization. Petroleum ether extract of <i>P. retzii</i> showed maximum inhibition of 68.6 % against AChE while other solvent extracts showed no inhibition. Seven fractions were obtained from the active extract using thin layer chromatography. Among which fraction no. 5 showed maximum inhibition of 86.37 % towards AChE. Fraction no. 5 when subjected to GC-MS led to determination of the active principle as stigmasterol. The maximum inhibition of stigmasterol (0.45µM) was 81.2±0.08% with IC50 value of 0.214. Stigmasterol from <i>P. retzii</i> inhibited AChE projecting itself as safer drug for Alzheimer's disease with minimal side effects.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 2","pages":"100-107"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10837910/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139681102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Contribution of the Adrenergic, Cholinergic, and Serotonergic Systems to Leiomyoma Development and Treatment.","authors":"Ângel Inácio, Laura Aguiar, Raquel Carrilho, Patrícia Pires, Joana Ferreira, Luís Coelho, Mário Rui Mascarenhas, Luís Sardinha, Tiago Bilhim, João Pisco, Manuel Bicho, Maria Clara Bicho","doi":"10.22088/IJMCM.BUMS.12.4.320","DOIUrl":"10.22088/IJMCM.BUMS.12.4.320","url":null,"abstract":"<p><p>The link between the autonomic nervous system and tumor biology is being unfold. We aim to study the contribution of genes of the adrenergic (ADBR2 - rs1042713, NM_000024.6:c.46G>A, NP_000015.2:p. Gly16Arg), cholinergic (CHRNA5 - rs16969968, NM_000745.3:c.1192G>A, NP_000736.2:p.Asp398Asn), and serotonergic systems (SLC6A4 - 5-HTTVNTR-intron2, HTR2A - rs6313, NM_000621.5:c.102C>T, NP_ 001365853 .1: p. Ser 34=) to gynecological tumorigenesis and their treatment by embolization. A total of 517 DNA samples from women were analyzed. Samples were genotyped by PCR, PCR-RFLP and EndPoint genotyping. Results show a statistically significant association between the AA genotype of the ADBR2 gene and GG genotype of the CHRNA5 gene with leiomyoma (OR = 2.311; p = 0.003 and OR = 2.165; p = 0.001, respectively), and the epistatic interaction between genotypes increases the risk (OR = 2.458; p= 0.043). The GG genotype (CHRNA5) shows a lower reduction of the volume of the main leiomyoma after treatment (p=0.015). Combination of the genotypes 12/12-AA (SLC6A4 - ADBR2) increases the risk to leiomyoma (OR = 2.540, p= 0.030). TT genotype of HTR2A gene in combination with any of the two risk genotypes (of ADBR2 or CHRNA5) increases substantially the risk (OR = 5.266, p = 0.006; OR = 6.364, p=0.007, respectively). We conclude that ADBR2 and CHRNA5 genes have a relevant role that is enhanced by the epistatic relationship with the genes HTR2A and SLC6A4. CHRNA5 gene may also be a modulator of the success of embolization. We confirm the contribution of the genetics of Autonomous Nervous System to tumor biology.</p>","PeriodicalId":14152,"journal":{"name":"International Journal of Molecular and Cellular Medicine","volume":"12 4","pages":"320-334"},"PeriodicalIF":1.5,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11240054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}