{"title":"Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.","authors":"Insaf Moudian, Joaira Bakkach, Zeineb Zian, Naima Ghailani Nourouti, Amina Barakat, Mohcine Bennani Mechita","doi":"10.1089/dna.2025.0089","DOIUrl":"https://doi.org/10.1089/dna.2025.0089","url":null,"abstract":"<p><p>Mitochondrial cardiomyopathy is a rare specific myocardial condition characterized by abnormal myocardium structure and/or function due to mitochondrial respiratory chain deficiency. This cardiac disorder results from mutations in mitochondrial DNA or nuclear genes affecting mitochondrial function. These mutations disrupt oxidative phosphorylation and consequently lead to energy deficit in the myocardial tissue and systemic symptoms due to impaired mitochondrial metabolism. In the current review, we aimed to highlight genetic and molecular underpinnings of mitochondrial cardiomyopathy. The impact of mitochondrial DNA characteristics on mitochondrial cardiomyopathy, mutations in both mitochondrial and nuclear genomes, as well as diagnostic limitations and future therapies, will be presented in this work.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546632","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":"<i>In Vitro</i> Study of the Damaging Effects of the Fungicide Dithianon on DNA Structure by Spectroscopic Techniques.","authors":"Parvaneh Pakravan","doi":"10.1089/dna.2024.0158","DOIUrl":"https://doi.org/10.1089/dna.2024.0158","url":null,"abstract":"<p><p>The common broad-spectrum protectant fungicide known as Dithianon is utilized in agriculture to manage pests; however, it could pose risks to human health. Dithianon may be associated with health problems due to its affinity for DNA. The interaction between Dithianon and calf thymus DNA (CT-DNA) was examined using UV-Vis absorption, fluorescence spectroscopy, and viscosity measurements with Neutral Red (NR) dye as a spectral probe in a physiological buffer. Dithianon, intercalated in DNA (K [DNA-Dithianon]= 2.3 × 10<sup>5</sup> M<sup>-1</sup>), causes the displacement of the NR dye from the NR-DNA complex. The binding constants (K<sub>f</sub>), the number of binding sites (n ≈ 1), and thermodynamic parameters of the interaction of DNA-Dithianon were determined using the fluorescence quenching method at various temperatures. Dithianon's ability to intercalate in DNA base pairs was further supported by the variations in CT-DNA base stacking observed in circular dichroic spectrum measurements and the rise in viscosity of the CT-DNA solution. The interaction energy between Dithianon and the DNA was primarily due to hydrophobic Van der Waals interactions. This study offers a comprehensive understanding of how dithianon interacts with CT-DNA, providing insights into the toxic effects of the fungicide.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546631","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}
DNA and cell biologyPub Date : 2025-07-01Epub Date: 2025-04-14DOI: 10.1089/dna.2025.0064
Christina T Stankey, James Christopher Lee
{"title":"The Role of ETS2 in Macrophage Inflammation.","authors":"Christina T Stankey, James Christopher Lee","doi":"10.1089/dna.2025.0064","DOIUrl":"10.1089/dna.2025.0064","url":null,"abstract":"<p><p>Autoimmune and inflammatory diseases are rising globally yet widely effective therapies remain elusive. Most treatments have limited efficacy, significant potential side effects, or eventually lose response, underscoring the urgent need for new therapeutic approaches. We recently discovered that ETS2, a transcription factor, functions as a master regulator of macrophage-driven inflammation-and is causally linked to the pathogenesis of multiple inflammatory diseases via human genetics. The pleotropic inflammatory effects of ETS2 included upregulation of many cytokines that are individually targeted by current disease therapies, including TNFα, IL-23, IL1β, and TNF-like ligand 1A signaling. With the move toward combination treatment-to maximize efficacy-targeting ETS2 presents a unique opportunity to potentially induce a broad therapeutic effect. However, there will be multiple challenges to overcome since direct ETS2 inhibition is unlikely to be feasible. Here, we discuss these challenges and other unanswered questions about the central role that ETS2 plays in macrophage inflammation.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"339-344"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028772","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":"<i>STING</i> rs7380824 Polymorphism Contributes to the Susceptibility of Colorectal Cancer in Chinese Population.","authors":"Xiufeng Zhang, WenLong Wu, Hongyan Li, Ying Jian, Ang Li, Zhi Zhang, Xuemei Zhang","doi":"10.1089/dna.2025.0020","DOIUrl":"10.1089/dna.2025.0020","url":null,"abstract":"<p><p><i>STING</i>, an endoplasmic reticulum-localized protein with multiple transmembrane domains, has been implicated in colorectal cancer (CRC) development. This study investigated the association between <i>STING</i> rs7380824 polymorphism and CRC susceptibility using both bioinformatics analysis and a case-control study. Bioinformatics predictions from SIFT and PolyPhen indicated that the rs7380824 variant, which results in an amino acid substitution from arginine (R) to glutamine (Q) at position 293, is likely to be deleterious, with a SIFT score of 0.000 and a PolyPhen score of 0.999. A total of 870 CRC patients and 870 healthy controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism. Logistic regression analysis demonstrated that individuals carrying the CT and TT genotypes had an increased risk of CRC with OR (95% CI) of 1.564 (1.115-2.192) and 1.551 (1.271-1.893), respectively. Stratified analysis showed that the rs7380824 C > T variant increased CRC risk in all age and gender groups. Furthermore, non-smokers with the CT or TT genotype had a higher CRC risk (OR = 1.661, 95% CI: 1.333-2.071, <i>p</i> < 0.001), while no significant association was observed among smokers (<i>p</i> = 0.238). Similarly, non-drinkers carrying the CT or TT genotype showed an increased CRC risk (OR = 1.746, 95% CI: 1.395-2.185, <i>p</i> < 0.001), whereas no significant difference was detected among drinkers (<i>p</i> = 0.265). This study identifies <i>STING</i> rs7380824 polymorphism as a significant contributor to CRC susceptibility, with bioinformatics predictions and case-control analysis confirming its deleterious impact and the association with increased CRC risk. In addition, these findings underscore the interplay between genetic and environmental factors in CRC development, highlighting <i>STING</i>'s potential as a genetic biomarker for CRC risk assessment in the Chinese population.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"380-388"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050373","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}
DNA and cell biologyPub Date : 2025-07-01Epub Date: 2025-05-29DOI: 10.1089/dna.2025.0058
Min Zhou, Biyu Tan, Jian Liu, Qiong Zhang, Li Wang, Qiongdan Hu
{"title":"The Active Ingredients of Herbs Targeting Long Noncoding RNA: A Potential Alternative to Treat Parenchymal Organ Inflammation and Fibrosis in the Future.","authors":"Min Zhou, Biyu Tan, Jian Liu, Qiong Zhang, Li Wang, Qiongdan Hu","doi":"10.1089/dna.2025.0058","DOIUrl":"10.1089/dna.2025.0058","url":null,"abstract":"<p><p>We review current studies on the anti-inflammatory and antifibrotic effects of herbal medicines and their active ingredients. To explore how these active ingredients target long noncoding RNA to exert their effects, we searched PubMed and Chinese National Knowledge Infrastructure databases for preclinical and clinical studies of long noncoding RNAs (lncRNA), herbal medicine, inflammation, and fibrosis. The active ingredients of herbal medicines were able to target lncRNAs. These interactions can have anti-inflammatory and antifibrotic effects on various diseases. The current studies provide preliminary insights but are not comprehensive. Targeting lncRNAs with herbal medicine ingredients is a promising direction for further research. This approach could lead to new alternative treatments for inflammation and fibrosis-related diseases.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"345-359"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144183207","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}
DNA and cell biologyPub Date : 2025-07-01Epub Date: 2025-05-12DOI: 10.1089/dna.2025.0005
Nima Mahdei Nasirmahalleh, Mina Hemmati, Negin Parsamanesh, Mohammad Borji
{"title":"Modulation of Cuproptosis Pathway Genes (DLAT, FDX1) and Antioxidant Enzyme Activities in Obese Mice in Response to Quercetin and Calorie Restriction.","authors":"Nima Mahdei Nasirmahalleh, Mina Hemmati, Negin Parsamanesh, Mohammad Borji","doi":"10.1089/dna.2025.0005","DOIUrl":"10.1089/dna.2025.0005","url":null,"abstract":"<p><p>Cuproptosis is a new mode of cell death that is closely related to mitochondrial stress. The purpose of this study is to investigate the amount of copper, copper-associated genes DLAT and FDX1 oxidative stress (OS) status in obesity. Since there is a close relationship between OS and cuproptosis, evaluating the effect of various strategies to reduce OS, including quercetin (QUER) and caloric restriction (CR), is another goal of this study. In this study, 30 male BALB-C mice aged 8 weeks and weighing 25 g, including the groups receiving normal diet (ND), ND with QUER (15 mg/kg, IP) and CR, a high-fat diet (HFD) with the QUER, CR or a combination of both were used. The activities of antioxidant enzymes superoxide dismutase (SOD), glutathione peroxidase (GPX), and glutathione reductase (GR), amount of copper in the liver and kidney tissues, and expression of DLAT and FDX1 genes were measured in all studied groups. The amount of copper in the liver and kidney tissue as well as the expression of FDX1 and DLAT in the HFD group increased significantly compared with the ND group. QUER, CR or their combination could significantly reduce the amount of copper as well as the expression of FDX1 and DLAT in liver and kidney tissues. QUER and CR, also significantly increased the activity of GR, SOD and GPX in serum, liver, and kidney tissues. Based on the results, QUER, CR and especially the simultaneous use of both, was able to reduce the amount of copper and its related cuproptosis. These effects may reduce cuproptosis-associated cell death. Therefore, the use of antioxidants and CR may be a promising solution to protect the human body against the effects of cuproptosis in conditions like obesity.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"370-379"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033026","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":"The Solute Carrier Family 47 Member 1, Transcriptionally Regulated by GATA Binding Protein 6, Inhibits Ferroptosis in Gastric Cancer.","authors":"Chang'e Shi, Hezhong Yan, Qihong Zhao, Zhengli Dou, Dejie Kong, Wensheng Wang","doi":"10.1089/dna.2025.0015","DOIUrl":"10.1089/dna.2025.0015","url":null,"abstract":"<p><p>Gastric cancer (GC) remains the leading cause of cancer deaths worldwide. GC development is a multistep and multifactorial process, and the molecular characterization of the multistage progression of gastric lesions to GC is poorly understood. Induction of ferroptosis driven by iron-dependent phospholipid peroxidation ameliorates the malignant progression of GC. Here, we found that solute carrier family 47 member 1 (SLC47A1) promoted GC progression by regulating ferroptosis. Clinically, SLC47A1 was elevated during the progression of gastritis to GC, and its high expression was associated with poor prognosis in patients with GC. Knockdown of SLC47A1 significantly inhibited cell proliferation, colony formation, and tumor growth. Further studies revealed that SLC47A1 was a regulator of ferroptosis rather than apoptosis or necrosis. Knockdown of SLC47A1 promoted ferroptosis in GC cells, as evidenced by increased erastin-induced cytoplasmic membrane rupture, cell death, lipid peroxidation, and malondialdehyde levels. Mechanistically, GATA6 promoted SLC47A1 transcription, leading to elevated SLC47A1 expression and promoting ferroptosis in GC cells. In summary, our study revealed the significant role of SLC47A1 in the development and progression of GC through regulating ferroptosis. Targeting the GATA6/SLC47A1 axis may be a promising therapeutic strategy for GC.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"360-369"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047215","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}
DNA and cell biologyPub Date : 2025-07-01Epub Date: 2025-05-05DOI: 10.1089/dna.2024.0284
Ambika Chamoli, Priyanka Patel Vatsa, Vinal Upadhyay, Amit Mandoli
{"title":"Chromatin Shearing in Suspension Cell Line: A Guide for Optimization.","authors":"Ambika Chamoli, Priyanka Patel Vatsa, Vinal Upadhyay, Amit Mandoli","doi":"10.1089/dna.2024.0284","DOIUrl":"10.1089/dna.2024.0284","url":null,"abstract":"<p><p>Chromatin immunoprecipitation (ChIP) assesses DNA-proteins interactions and hence helps to generate intricate relationships and vital information. ChIP determines the genomic location of specific proteins or post-translational modifications at an individual locus or genome-wide. The protocol endures complexity; hence it is of utmost importance to identify the variable responsible for experimental erraticism. The most sensitive and critical step involves the chromatin fragmentation step. In the current study, the parameters required for chromatin shearing in the Kasumi-1 cell line have been optimized. To address this, the protocol includes the fixation of cells with formaldehyde followed by cell lysis and nuclei isolation. Further chromatin shearing using various sonication buffers and sonicator parameters was performed. Successful sonication was observed at the following settings: peak incident power of 150 W, duty factor 7.0%, cycles per burst 200, and water fill level 8 generating fragments of ∼250-600 bp in 7 min. To analyze enriched DNA sequences that are associated with the target protein ChIP coupled with quantitative PCR was performed. With this study, the optimal procedure has been standardized for a percentage of detergents, SDS (0.15%), DOC (0.05%) in the sonication buffer, and duration of sonication to achieve the desired fragmentation pattern. The quality of shearing determines the success of the experiment.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"389-398"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047213","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}
DNA and cell biologyPub Date : 2025-07-01Epub Date: 2025-07-02DOI: 10.1089/dna.2024.0268.correx
{"title":"Corrigendum to \"Association Between MUC13 Gene Polymorphisms and Exacerbations of Asthma Under the Influence of Cigarette Smoking\".","authors":"","doi":"10.1089/dna.2024.0268.correx","DOIUrl":"10.1089/dna.2024.0268.correx","url":null,"abstract":"","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"399"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556200","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}
Anjana C Lalu, Fathimathul Lubaba, Athira Perunelly Gopalakrishnan, Althaf Mahin, Suhail Subair, Prathik Basthikoppa Shivamurthy, Athira C Rajeev, Rajesh Raju
{"title":"Mapping Cophosphoregulation Networks Linked to Transcriptional Regulator Bromodomain-Containing Protein 4.","authors":"Anjana C Lalu, Fathimathul Lubaba, Athira Perunelly Gopalakrishnan, Althaf Mahin, Suhail Subair, Prathik Basthikoppa Shivamurthy, Athira C Rajeev, Rajesh Raju","doi":"10.1089/dna.2025.0088","DOIUrl":"https://doi.org/10.1089/dna.2025.0088","url":null,"abstract":"<p><p>Bromodomain-containing protein 4 (BRD4) is a pivotal transcriptional regulator implicated in cancer, fibrosis, and inflammation, yet its phospho-regulatory network remains underexplored. This study leverages an extensive analysis of 1000 qualitative and 225 quantitative global phosphoproteome datasets to decode the BRD4 phosphorylation landscape. We identified S601 and S1117 as predominant phosphorylation sites, driving the majority of BRD4 phospho-signaling. Co-regulation analysis revealed 755 and 972 proteins positively cophosphorylated with S601 and S1117, respectively, including key interactors like TRIM28 (S473) and PRKAR2A (S78), which enhance transcriptional activity and cAMP signaling. Upstream kinases MAPK14 and GRK5 emerged as high-confidence regulators of S1117 and S601, respectively, with correlations in breast cancer highlighting disease relevance. In addition, 93 phosphosites in 71 transcription factors co-regulated with S1117 and 69 in 53 with S601 underscore the role of BRD4 in transcription control. These findings unveil a complex phospho-signaling network, offering novel therapeutic targets for BRD4-associated diseases and a foundation for future experimental validation.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144277127","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}