Epigenomics最新文献_第7页

Epigenetic dysregulation of high-grade gliomas: from heterogeneity to brain network modulation. 高级别胶质瘤的表观遗传失调：从异质性到脑网络调节。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-11-06 DOI: 10.1080/17501911.2025.2583895

Kiyohito Murai, Nozomi Kobayashi, Wataru Tarumi, Yasukazu Nakahata, Kenta Masui

{"title":"Epigenetic dysregulation of high-grade gliomas: from heterogeneity to brain network modulation.","authors":"Kiyohito Murai, Nozomi Kobayashi, Wataru Tarumi, Yasukazu Nakahata, Kenta Masui","doi":"10.1080/17501911.2025.2583895","DOIUrl":"10.1080/17501911.2025.2583895","url":null,"abstract":"High-grade gliomas (HGGs), including glioblastoma and diffuse midline glioma, highlight one of the most aggressive brain tumors in adults and children with dismal prognosis despite intensive treatment regimens. Recently, epigenetic dysregulation has emerged as a fundamental hallmark of HGG biology, and the epigenetic alterations contribute not only to the molecular classification of HGGs but also to their malignant functional biology. Another notable feature of epigenetic dysregulation in HGGs is its influence on intratumoral heterogeneity, via possible modification of the neuron-glioma network in the brain. In this review, we aim to compile recent advances in our understanding of epigenetic dysregulation in HGGs, focusing on key mechanisms such as DNA methylation, histone modifications, chromatin remodeling and non-coding RNAs. Furthermore, we will update our knowledge on the unexpected biology of glioma interaction with neuronal components from a standpoint of epigenetic heterogeneity. By discussing the epigenetic landscape of HGGs, we aim to provide a framework for future research and therapeutic innovation in the management of these devastating tumors.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1513-1524"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145451211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome. MeCP2在Rett综合征缺氧、氧化应激和基因调控的十字路口。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-10-02 DOI: 10.1080/17501911.2025.2568303

Jessica L Huang, Osman Sharifi, Dag H Yasui, Janine M LaSalle

{"title":"MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome.","authors":"Jessica L Huang, Osman Sharifi, Dag H Yasui, Janine M LaSalle","doi":"10.1080/17501911.2025.2568303","DOIUrl":"10.1080/17501911.2025.2568303","url":null,"abstract":"Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females, caused by mutations in the X-linked gene MECP2. This gene encodes methyl CpG binding protein 2 (MeCP2), a multifunctional epigenetic regulator critical for neuronal gene regulation. In addition to well-characterized neurological symptoms, such as seizures and motor abnormalities, RTT patients frequently present with irregular breathing patterns that induce intermittent hypoxia, suggesting that MeCP2 contributes to respiratory regulation as well as the brain's cellular and molecular response to hypoxia. Mechanistically, MeCP2 appears to influence hypoxia-induced expression of the neuroprotective peptide brain-derived neurotrophic factor (BDNF), as impaired BDNF regulation in MeCP2-deficient neurons contributes to hypoxia vulnerability. RTT patients also display increased oxidative stress, marked by elevated lipid peroxidation, DNA damage, and reduced antioxidant production. Dysfunctional mitochondria in MeCP2-deficient astrocytes and neurons further propagate oxidative damage and non-cell-autonomous effects of MeCP2 loss. Moreover, recent transcriptomic studies revealed widespread transcriptional dysregulation in RTT, including pathways associated with mitochondrial function and oxidative stress. We review and discuss an expanded role for MeCP2 as a critical integrator of hypoxia sensing, oxidative stress regulation, and transcriptional adaptation in the developing brain, offering new insights into treatments targeting the complex pathophysiology of RTT.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1281-1291"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A father's legacy: the sperm epigenome, preimplantation development, and paternal environment. 父亲的遗产：精子表观基因组、着床前发育和父亲环境。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-10-06 DOI: 10.1080/17501911.2025.2569301

Leonard C Steg, Isabelle M Mansuy

引用次数: 0

Targeting TET enzymes in ovarian cancer: epigenetic regulation, chemoresistance, and therapeutic opportunities. 卵巢癌靶向TET酶：表观遗传调控、化疗耐药和治疗机会。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-11-30 DOI: 10.1080/17501911.2025.2595912

Padival Shruptha, Jagadeesha Poyya, Thanvanthri Gururajan Vasudevan, Kapaettu Satyamoorthy

{"title":"Targeting TET enzymes in ovarian cancer: epigenetic regulation, chemoresistance, and therapeutic opportunities.","authors":"Padival Shruptha, Jagadeesha Poyya, Thanvanthri Gururajan Vasudevan, Kapaettu Satyamoorthy","doi":"10.1080/17501911.2025.2595912","DOIUrl":"10.1080/17501911.2025.2595912","url":null,"abstract":"The intrinsic and acquired resistance of ovarian cancer to conventional platinum/taxane chemotherapy is approximately 80-85%, with a high recurrence rate, making it one of the most lethal gynecological cancers. Epigenetic dysregulation, a key factor in tumor growth and chemoresistance, includes abnormal DNA methylation and 5-hydroxymethylcytosine (5hmC) loss. The ten-eleven translocation (TET) family of dioxygenases (TET1/TET2/TET3) mediates DNA demethylation, causing oxidation of 5-methylcytosine to 5hmC, potentially altering gene expression due to cancer cell plasticity and impacting treatment responses. This review discusses the multiple effects of TETs in ovarian cancer, highlighting the regulation of epithelial mesenchymal transition (EMT), cancer stem cells (CSCs), and the Wnt/β-catenin and TGF-β signaling pathways by TET enzymes. TET1 plays a dual role, promoting chemoresistance via CSC enrichment and suppressing tumors by replenishing Wnt antagonists. TET2, primarily a tumor suppressor, reduces 5hmC; TET2 loss is associated with poor therapeutic results. Elevated expression of TET3, which controls EMT and miRNA expression, is linked to a worse prognosis. In addition, we reviewed the potential resensitization of resistant tumors to multiple modalities of treatment by reactivating/modulating TET activity and function via cofactors and epigenetic treatment. Regulation of the TET-5hmc axis appears promising to overcome chemoresistance and improve therapeutic outcomes.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1551-1564"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145647777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

From population science to the clinic? Limits of epigenetic clocks as personal biomarkers. 从人口科学到临床？表观遗传时钟作为个人生物标志物的局限性。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-12-16 DOI: 10.1080/17501911.2025.2603880

Abner T Apsley, Laura Etzel, Qiaofeng Ye, Idan Shalev

{"title":"From population science to the clinic? Limits of epigenetic clocks as personal biomarkers.","authors":"Abner T Apsley, Laura Etzel, Qiaofeng Ye, Idan Shalev","doi":"10.1080/17501911.2025.2603880","DOIUrl":"10.1080/17501911.2025.2603880","url":null,"abstract":"Epigenetic clocks are machine-learning algorithms which use DNA methylation patterns to predict aging-related phenotypes, such as chronological age, composite indicators of health, time-to-death, and the pace of biological aging. These clocks have been instrumental at the population level in revealing how disease risk emerges from behavioral, environmental, and psychosocial factors, and how certain anti-aging interventions may alter those trajectories. Given the success of epigenetic clocks at the population level, it is reasonable to assume they might also hold value as individual-level biomarkers. We contend, however, that fundamental technical and biological properties of these algorithms prohibit their current use at the individual level. Technical concerns include methods of clock construction, sample collection and processing, data preprocessing, and computational implementations. Biological considerations include the nature of DNA methylation and its dynamics, variation across developmental periods, tissue specificity, and sensitivity to environmental/sociodemographic contexts. We show that clocks fail to meet common standards for clinical utility compared with established biomarkers, and that applying epigenetic clocks in individual-level decision making can be uninformative and potentially harmful. Finally, we argue that even if all technical and biological hurdles can be overcome, epigenetic clocks, as we currently understand them, should not be used to make individual-level decisions.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1447-1461"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12714307/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145767373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

SLUR(M)-py: a SLURM powered Pythonic pipeline for parallel processing of 3D (Epi)genomic profiles. SLUR(M)-py：一个SLURM驱动的python流水线，用于并行处理3D （Epi）基因组图谱。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-10-03 DOI: 10.1080/17501911.2025.2568368

Cullen Roth, Vrinda Venu, Sasha Bacot, Shawn R Starkenburg, Christina R Steadman

{"title":"SLUR(M)-py: a SLURM powered Pythonic pipeline for parallel processing of 3D (Epi)genomic profiles.","authors":"Cullen Roth, Vrinda Venu, Sasha Bacot, Shawn R Starkenburg, Christina R Steadman","doi":"10.1080/17501911.2025.2568368","DOIUrl":"10.1080/17501911.2025.2568368","url":null,"abstract":"Epigenomics has become multi-faceted, with researchers exploring chromatin structure, nucleosome states, and epigenetic modifications, producing large, complex multi-omic datasets. Given this shift, there is a demand for bioinformatics that leverage high-performance computing (HPC) and parallelization to quickly process data. As such, we developed SLUR(M)-py, a pythonic computational platform that leverages the Simple Linux Utility for Resource Management system (SLURM) to process sequencing data. SLUR(M)-py is multi-omic and automates calls to SLURM for processing paired-end sequences from chromatin characterization experiments, including whole-genome, ChIP-seq, ATAC-seq, and Hi-C, thereby eliminating the need for multiple analytics pipelines. To demonstrate SLUR(M)-py's utility, we employ ATAC-seq and Hi-C data from viral infection experiments and the ENCODE project, and illustrate its processing speed and completeness, which outpaces current HPC pipelines. We explore the effect of dropping duplicate sequenced reads in ATAC-seq, demonstrate how SLUR(M)-py can be used for quality control, and how to detect artifacts in Hi-C from viral infection experiments. Finally, we show how features in SLUR(M)-py, like inter-chromosomal analysis, can be used to explore the dynamics of chromosomal contacts in mammalian cells. This multi-omic, system-agnostic platform eases the computational burden for researchers and quickly produces accurate and reliable data analytics for the epigenomics community.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1233-1247"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12674242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The epigenetic mechanisms of ketamine in the treatment of depression: a systematic review. 氯胺酮治疗抑郁症的表观遗传机制：系统综述。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-11-07 DOI: 10.1080/17501911.2025.2583892

Ivana Leccisotti, Maria Claudia Moretti, Mario Altamura, Antonello Bellomo, Rossana Laurello, Michele Carapellese, Giancarlo Sborgia, Vittorio Dibello, Gabriel Robert, Francesco Panza, Madia Lozupone

{"title":"The epigenetic mechanisms of ketamine in the treatment of depression: a systematic review.","authors":"Ivana Leccisotti, Maria Claudia Moretti, Mario Altamura, Antonello Bellomo, Rossana Laurello, Michele Carapellese, Giancarlo Sborgia, Vittorio Dibello, Gabriel Robert, Francesco Panza, Madia Lozupone","doi":"10.1080/17501911.2025.2583892","DOIUrl":"10.1080/17501911.2025.2583892","url":null,"abstract":"Aim: Ketamine antidepressant effects go beyond immediate receptor action, involving lasting transcriptional and epigenomic changes that support its rapid, long-lasting benefits. The present systematic review synthesized existing preclinical and clinical evidence on the epigenetic mechanisms of ketamine in the treatment of depression.Methods: A comprehensive search of three electronic databases was conducted through April 2025. Of 264 records screened, 18 studies met inclusion criteria most of which were preclinical. The study protocol was registered with PROSPERO (CRD420251063429).Results: Most preclinical studies (n = 7) consistently showed that ketamine may modulate histone acetylation and methylation, boosting transcription of neuroplasticity-related genes. Six studies implicated non-coding RNAs - particularly microRNAs - in sustaining antidepressant effects. Five studies reported that ketamine reversed promoter hypermethylation in genes linked to synaptic signaling and stress, including brain-derived neurotrophic factor, restoring their expression. These effects were strongest in brain areas key to emotional regulation, like the hippocampus, medial prefrontal cortex, and nucleus accumbens. Indirect epigenetic mechanisms have been implicated in the regulation of circadian clock and inflammatory genes.Conclusions: Ketamine may exert multilayered epigenetic modulation, leading to the reactivation of key neuroplasticity pathways. Although preclinical findings were strong, limited human data highlighted the need for translational studies to determine the clinical relevance of these mechanisms.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1641-1658"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145457923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Advancing epigenetic signatures as functional biomarkers in rare diseases. 推进表观遗传特征作为罕见疾病的功能性生物标志物。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-11-05 DOI: 10.1080/17501911.2025.2583891

Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Marco Tartaglia

{"title":"Advancing epigenetic signatures as functional biomarkers in rare diseases.","authors":"Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Marco Tartaglia","doi":"10.1080/17501911.2025.2583891","DOIUrl":"10.1080/17501911.2025.2583891","url":null,"abstract":"Alterations of the DNA methylation (DNAm) status of the genome underlie an increasing number of rare diseases. Recently, DNAm has also emerged as a highly informative biomarker for diagnosing rare disorders, which can be associated with distinctive genome-wide DNAm patterns (i.e., episignatures). Indeed, episignature testing has proven to represent an effective orthogonal omics technology, providing independent functional evidence to support or prioritize specific diagnostic hypotheses for hundreds of rare diseases, and reclassify variants of uncertain significance (VUS) emerging from genomic sequencing. Furthermore, the stability and plasticity inherent in DNAm make it a promising tool for personalized medicine, including patient stratification and therapeutic monitoring. This review outlines current technologies and analytical methodologies for genome-wide DNAm profiling and explores potential avenues of research, emphasizing artificial intelligence and multiomics integration to effectively manage patients with rare and complex phenotypes. We critically assess the current limitations and future directions of genome-wide DNAm profiling to expand the implementation of DNAm signatures as functional biomarkers, highlighting their importance as supplementary tools to genomic sequencing in clinical and research settings.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1525-1535"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145444330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expression of G-quadruplex coordinates BRCA1, CDH1, and RASSF1 via DNA methylation in mouse breast cancer cells. 小鼠乳腺癌细胞中g -四重体坐标BRCA1、CDH1和RASSF1的DNA甲基化表达

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-10-24 DOI: 10.1080/17501911.2025.2577003

Xinchen Zhou, Zhuo Jin, Xintong Zhan, Shuhui Yang, Yang Jiang, Helin Wang, Zhuo Zhang, Shuhan Dong, Wei Xia, Limei Liu

{"title":"Expression of G-quadruplex coordinates BRCA1, CDH1, and RASSF1 via DNA methylation in mouse breast cancer cells.","authors":"Xinchen Zhou, Zhuo Jin, Xintong Zhan, Shuhui Yang, Yang Jiang, Helin Wang, Zhuo Zhang, Shuhan Dong, Wei Xia, Limei Liu","doi":"10.1080/17501911.2025.2577003","DOIUrl":"10.1080/17501911.2025.2577003","url":null,"abstract":"Background: G-quadruplex (G4) structures are enriched in key genomic regions and regulate gene expression and chromosomal stability. However, their role in de novo DNA methylation remains unclear. DNA methyltransferase 3A (DNMT3A) and DNA methyltransferase 3B (DNMT3B) are vital for cancer initiation and progression. This study investigated the role of G4 structures in regulating DNMT3A and DNMT3B expression and their epigenetic function in breast cancer.Methods: G4 structures in DNMT3A and DNMT3B were identified using Quadruplex forming G-Rich Sequences Mapper, circular dichroism, and gel mobility shift assays. The effects of the G4 stabilizer pyridostatin on breast cancer 4T1 cell proliferation, migration, DNMT3A and DNMT3B expression, and promoter methylation of Breast Cancer 1 (BRCA1), E-cadherin (CDH1), and Ras Association Domain Family Member 1 (RASSF1) were evaluated.Results: G4-forming sequences were found in the core promoter regions of DNMT3A and DNMT3B. They formed parallel G4 structures in vitro. Pyridostatin enhanced G4 stability, inhibited 4T1 cell proliferation and migration, downregulated DNMT3A and DNMT3B expression, reduced promoter methylation of BRCA1 and RASSF1, and altered target gene expression.Conclusion: Promoter G4 structures actively regulate gene expression by modulating de novo DNA methylation, suggesting that targeting G4s may represent a novel therapeutic strategy for breast cancer.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1335-1346"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145354029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic and epigenetic regulatory networks in atrioventricular block: mechanisms and therapeutic prospects. 房室传导阻滞的遗传和表观遗传调控网络：机制和治疗前景。

IF 2.6 4区医学

Epigenomics Pub Date : 2025-12-01 Epub Date: 2025-12-09 DOI: 10.1080/17501911.2025.2593426

Song Yan, Yuting Xia, Jin Liu, Yang Zhang, Li Wei

{"title":"Genetic and epigenetic regulatory networks in atrioventricular block: mechanisms and therapeutic prospects.","authors":"Song Yan, Yuting Xia, Jin Liu, Yang Zhang, Li Wei","doi":"10.1080/17501911.2025.2593426","DOIUrl":"10.1080/17501911.2025.2593426","url":null,"abstract":"Atrioventricular block (AVB) is a frequent arrhythmia and can arise from both genetic predisposition and epigenetic regulation. This review provides a synopsis of the latest findings concerning the interactions of genetic-epigenetic interactions with an emphasis on mechanisms that are most likely responsible for pathobiological pathways relating to the cause of AVB. For instance, hypermethylation of the SCN5A promoter or hypomethylation ofgene transcriptionally regulates the activity of the sodium channels, and their conduction likely results in conduction disorders. We also know that miR-1 and miR-133 are significantly dysregulated in arrhythmogenic remodeling. DNA methylation of ion channels in genes is most commonly cited form of epigenetic factor among all factors mentioned above, followed by histone modifications also directed to transcription factors related to conduction. We performed a structured literature search on PubMed, Scopus, and Web of Science (2000-2025) that included human and animal studies that examined genetic and epigenetic mechanism relative to AVB. Current studies indicate a multi-tier regulatory network that incorporates inherited and environmental factors but lacks longitudinal, integrated multi-omics studies that clarify the causal pathway interaction between these systems. If we can identify interaction of genetic and epigenetic factors, we can develop valuable diagnostic and therapeutic strategies targeting AVB.","PeriodicalId":11959,"journal":{"name":"Epigenomics","volume":" ","pages":"1565-1579"},"PeriodicalIF":2.6,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12826716/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145707805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0