Mutation Research-Reviews in Mutation Research最新文献

{"title":"Molecular Mechanisms of Radiation-Induced Oxidative Stress: A Genomic Perspective.","authors":"Arya Bhawalkar, Penna Suprasanna","doi":"10.1016/j.mrrev.2026.108610","DOIUrl":"https://doi.org/10.1016/j.mrrev.2026.108610","url":null,"abstract":"<p><p>Radiation-induced oxidative stress is one of the central mechanisms pertaining to the biological effects of ionizing radiation, affecting living systems across different levels of an organism. The cascade of events begins with the radiolysis of water and generation of reactive oxygen and nitrogen species (ROS/RNS), radiation exposure cascades into widespread oxidative damage in DNA, proteins, and lipids, with notable consequences for genomic stability and cell fate. This review synthesises the insights from omics, primarily highlighting the roles of DNA repair pathways, chromatin remodeling, RNA processing, and metabolic rewiring in mediating cellular adaptation, injury, or death. An important dimension of radiation research is the evolutionary adaptation of organisms to chronic or naturally higher radiation environments and its probable implications for biomarker discovery. Insights from space-exploration setups, as well as high natural background radiation zones, may enable ascertain conserved adaptive signatures and candidate biomarkers of radiation induced oxidative stress. Integrating these data with multi-omics approaches could facilitate the translation of radiation-responsive molecular signatures into robust biomarkers. Regardless of major advances, persistent challenges remain in modelling of chronic injury, translating of large-scale omics into clinics, and protecting non-target tissues. Key focus areas are that of mechanisms of mutation and epigenetic change, systems biology integration of multi-omics stress responses, identification of cross-species conserved biomarkers, and the clinical relevance of omics-based biodosimetry and therapeutic prediction. Continued interdisciplinary research combining advanced molecular profiling, systems analysis, and translational radiobiology will be essential for reducing radiation risks and harnessing potential uses of ionizing radiation.</p>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":" ","pages":"108610"},"PeriodicalIF":6.5,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Structural insight into human Y-family polymerases and mechanistic basis of translesion synthesis of key DNA damages","authors":"Yogendra Singh Rajpurohit,&nbsp;Aanchal Mishra,&nbsp;Dhirendra Kumar Sharma,&nbsp;Ishu Soni","doi":"10.1016/j.mrrev.2026.108608","DOIUrl":"10.1016/j.mrrev.2026.108608","url":null,"abstract":"<div><div>This review provides an accessible and mechanistically focused overview of the structural basis of human Y-family DNA polymerases and their roles in translesion synthesis (TLS) across diverse DNA lesions. The review highlights the unique structural features of these polymerases, including Polη, Polɩ, Polκ, and Rev1, and their specific mechanisms for navigating past DNA lesions including UV-induced CPDs, platinum drug-induced DNA damage, and alkylated DNA damage. Furthermore, structural insight are discussed to understand the structural mechanisms and fidelity differences among Y-family DNA polymerases during various lesion bypasses. Summarized findings on structural insight of bypass of various DNA lesions by Y-family polymerases represent TLS mediated mechanistic view of maintaining genomic stability and cancer cell survival, particularly under conditions of replication stress and DNA damage.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108608"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149018559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of solute carrier family 19 member 1 (SLC19A1) A80G polymorphism with the maternal risk for having a child with Down syndrome: A systematic review and meta-analysis","authors":"Marco Andrea Malanima,&nbsp;Sabrina Giometto,&nbsp;Marco Fornili,&nbsp;Laura Baglietto,&nbsp;Fabio Coppedè","doi":"10.1016/j.mrrev.2026.108607","DOIUrl":"10.1016/j.mrrev.2026.108607","url":null,"abstract":"<div><div>Impairments in folate metabolism have long been suspected to contribute to chromosome 21 aneuploidy and Down syndrome (DS). Indeed, several studies have investigated the role of a functional polymorphism in the reduced folate carrier gene, known as either <em>SLC19A1</em> or <em>RFC-1</em> A80G polymorphism (rs1051266), as a maternal risk factor for having a child with DS.</div><div>We searched for available case-control studies investigating this association and included 16 independent studies, for a total of 1958 DS mothers and 2750 control mothers. We performed random-effects meta-analyses to summarize the results on the association between the presence of this polymorphism and the risk of giving birth to a DS child, and reported odds ratios (ORs) with 95% confidence intervals (CIs) as measures of association. We also performed a trial sequential analysis (TSA) to clarify the robustness of the meta-analyses.</div><div>Under the recessive model (GG vs AA+AG), the association was significant (OR=1.29, 95% CI: 1.03–1.61), also when including only studies with Hardy-Weinberg equilibrium (HWE) in control mothers (OR=1.38, 95% CI: 1.09–1.75). Additionally, significant associations emerged from allelic contrast (G vs A; OR=1.21, 95% CI: 1.02–1.43) and homozygote comparison (GG vs AA; OR=1.47, 95% CI: 1.04–2.07) when considering only the studies in which controls were in HWE. Results from TSA indicate that the number of studies might be sufficient to support the observed associations.</div><div>The present meta-analysis suggests that the <em>RFC-1</em> A80G polymorphism is associated with a slight yet significant increase in the risk of having a child with DS, especially in homozygous GG mothers.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108607"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149004231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Revisiting familial aggregation of prostate cancer within the 3D framework of genetics-epigenetics-environment","authors":"Kunshan Shi,&nbsp;Baotai Liang,&nbsp;Ting He,&nbsp;Dongfang Jiang","doi":"10.1016/j.mrrev.2026.108603","DOIUrl":"10.1016/j.mrrev.2026.108603","url":null,"abstract":"<div><div>Prostate cancer (PCa) is one of the most heritable cancers, exhibiting significant familial aggregation, however, its underlying mechanisms remain incompletely understood. This review proposes a Genetics-Epigenetics-Environment (G-E-E) 3D framework, which not only integrates genetic factors frequently addressed in previous reviews but also incorporates overlooked intergenerational/transgenerational epigenetic inheritance (IEI/TEI) and family-shared environment (FSE). Regarding genetic factors, germline mutations (e.g. BRCA1/2, MLH1, HOXB13), single nucleotide polymorphisms (SNPs), germline copy number variations (GCNVs), and Y-chromosome haplotypes have been extensively documented in PCa familial aggregation research. Adverse parental environmental exposures can induce epigenomic abnormalities in germ cells (including DNA methylation, histone modifications, and non-coding RNAs), which can be transmitted intergenerationally or transgenerationally to drive the initiation and progression of PCa in offspring. Finally, we note that family-shared environments collectively influence all family members, thereby contributing to PCa familial aggregation. Together, these three classes of factors—genetic, epigenetic, and environmental—provide a more comprehensive perspective for explaining the familial aggregation of PCa, offering new insights into predicting its occurrence within families.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108603"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somatic variant-calling beyond cancer: Repurposing algorithms to map low‑allele‑fraction variants across genomics","authors":"Nicholas Taylor,&nbsp;Timothy J. Hearn","doi":"10.1016/j.mrrev.2026.108602","DOIUrl":"10.1016/j.mrrev.2026.108602","url":null,"abstract":"<div><h3>Background</h3><div>Somatic variant callers were originally developed to identify tumour-specific mutations in mixed tumour-normal samples. Increasingly, disciplines such as developmental biology, reproductive medicine, virology and mitochondrial genetics require detection of low-frequency variants from high-depth sequencing. Many laboratories therefore reuse cancer callers without clear guidance on their statistical assumptions or validation in non-cancer contexts.</div></div><div><h3>Methods</h3><div>We review widely used somatic callers and post-calling classifiers, summarising their underlying models and assumptions. We then synthesise peer-reviewed case studies (2020–2025) where these tools were applied to detect low-allele-fraction variants outside cancer. For each study, we extract sample type, sequencing depth, variant-allele-fraction thresholds, caller(s) used and validation approaches. We discuss technical challenges and propose practical adaptations.</div></div><div><h3>Results</h3><div>Cancer callers generally assume diploid genomes and moderate allele fractions, use Beta-binomial or Poisson-based models and apply filters for tumour/normal comparisons. In non-cancer applications, allele fractions frequently fall below 5%, confounded by ploidy differences and sequencing artefacts. Published studies demonstrate that somatic callers can be repurposed for detecting post-zygotic variants at 1–3% allele fraction, sperm mosaicism, mitochondrial heteroplasmy as low as 0.4–0.5%, minority viral variants around 5% and cfDNA variants at ≥ 1–5% allele fraction. Unique molecular identifiers, panel-of-normal filtering and machine-learning post-processing markedly improve specificity. Emerging long-read and deep-learning callers (e.g. DeepSomatic) promise enhanced sensitivity.</div></div><div><h3>Conclusions</h3><div>Somatic callers offer versatile frameworks to interrogate low-allele-fraction variants across genomics; however, careful parameter tuning and validation are essential. Future work could integrate pangenome references and federated benchmarking datasets to make somatic variant detection more robust in diverse biological settings.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108602"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148354539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genotoxicity and oral tissue damage associated with tooth bleaching agents: A scoping review","authors":"Patrick Wesley Marques de Boa,&nbsp;Mariana Silva de Bessa,&nbsp;Flávio Pereira dos Santos Filho,&nbsp;Lara Beatriz Nascimento Diniz,&nbsp;Rodrigo Othávio de Assunção e Souza,&nbsp;Laércio Almeida de Melo,&nbsp;Arthur Cesar de Medeiros Alves,&nbsp;Boniek Castillo Dutra Borges","doi":"10.1016/j.mrrev.2026.108605","DOIUrl":"10.1016/j.mrrev.2026.108605","url":null,"abstract":"<div><div>Tooth bleaching is one of the most frequently performed esthetic procedures in dentistry. Although peroxide-based bleaching agents effectively promote color change, their decomposition generates reactive oxygen species that may induce oxidative stress, cytotoxicity, genotoxicity, inflammation, and oral tissue alterations. This scoping review mapped and synthesized the available evidence regarding genotoxicity and oral tissue damage associated with tooth bleaching procedures, identified the biological models and analytical methods used to investigate these outcomes, and explored differences among bleaching protocols. The review followed the Joanna Briggs Institute methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines. Searches were conducted in major electronic databases and supplementary searches. Ninety-four studies were included, comprising laboratory, animal, and human investigations. The most commonly used analytical methods included micronucleus assays, comet assays, oxidative stress biomarkers, molecular analyses, and histopathological evaluations. Peroxide-based bleaching agents were frequently associated with oxidative stress, cytotoxicity, genotoxicity, inflammatory responses, apoptosis, and tissue alterations, which appeared to occur in a concentration-dependent and time-dependent manner. Laboratory studies generally reported more pronounced biological effects, whereas animal and clinical investigations demonstrated the influence of physiological defense and repair mechanisms. Clinical studies frequently reported transient biological alterations. Oxidative stress emerged as the central mechanism linking peroxide exposure to cellular and tissue damage. Overall, peroxide concentration, exposure duration, and protocol design emerged as relevant factors modulating biological responses, whereas catalysts, antioxidants, and photobiomodulation therapies represented promising strategies to mitigate bleaching-induced damage. Further standardized and long-term clinical studies are required to clarify the biological significance and clinical relevance of these effects.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108605"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148889074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Baseline frequency of micronuclei and other nuclear abnormalities in pregnant women: A scoping review and meta-analysis","authors":"Anny Cristine de Araújo,&nbsp;Manoel Carlos da Silva Freire,&nbsp;Joana Cristina Medeiros Tavares Marques,&nbsp;Karla Danielly da Silva Ribeiro Rodrigues,&nbsp;Adriana Augusto de Rezende","doi":"10.1016/j.mrrev.2026.108604","DOIUrl":"10.1016/j.mrrev.2026.108604","url":null,"abstract":"<div><div>Baseline frequency of micronuclei and other nuclear abnormalities in pregnant women: a scoping review and meta-analysis Pregnancy involves physiological and metabolic changes that may influence genomic stability and increase the occurrence of nuclear abnormalities. However, baseline frequency of micronuclei (MN) during pregnancy frequency remains poorly established. This study aimed to review the available evidence on MN frequency in pregnant women and to estimate baseline MN frequency in healthy and high-risk pregnancies through a meta-analysis. A scoping review and a meta-analysis were conducted according to Joanna Briggs Institute recommendations. Searches were performed in PubMed, Scopus, ScienceDirect, and Google Scholar without language or publication date restrictions. Quantitative synthesis was performed using random-effects models with log-transformed values. Sensitivity analyses included Cook’s distance, Baujat plots, and leave-one-out analyses. Twenty-six studies involving 2866 participants were included. Most studies were cross-sectional and evaluated environmental exposures, dietary factors, biological/hormonal factors, and maternal diseases or gestational complications. All included studies used the Cytokinesis-Block Micronucleus Assay, whereas only one study additionally applied the Buccal Micronucleus Cytome. The pooled estimated MN frequency was 2.65 (95% CI: 1.45–4.86) in healthy pregnancies and 14.75 (95% CI: 8.76–24.83) in high-risk pregnancies. Subgroup analyses demonstrated higher MN estimates in studies evaluating biological/hormonal factors (5.36; 95% CI: 3.22–8.93) and dietary exposures (4.25; 95% CI: 2.34–7.74). Higher MN frequency was observed only when the high-risk pregnancy group was used as the reference, compared with exposure groups (p &lt; 0.01). These findings suggest that high-risk pregnancies are associated with increased genomic instability and also reinforce the importance of establishing reference estimates for MN frequency in maternal biomonitoring studies.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108604"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148769383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Radiation-induced non-DSB clustered DNA lesions: Chemistry, repair, mutagenesis, and computational modeling","authors":"Tu Minh Khuong,&nbsp;Jong-Hyun Jung,&nbsp;Sangyong Lim","doi":"10.1016/j.mrrev.2026.108609","DOIUrl":"10.1016/j.mrrev.2026.108609","url":null,"abstract":"<div><div>Ionizing radiation (IR) generates chemically heterogeneous DNA damage whose spatial organization depends on radiation quality, including linear energy transfer (LET), the amount of energy deposited per unit path length. Among these lesions, non-double-strand-break (non-DSB) clusters comprise combinations of oxidized bases, abasic (AP) sites, and strand-break intermediates that do not initially constitute a double-strand break (DSB). Their biological effects depend on lesion identity, spacing, strand orientation, and the repair-state transitions that occur during base excision repair (BER). Prompt DSBs remain major determinants of immediate chromosome disruption and acute cytotoxicity, whereas non-DSB clusters represent a distinct processing-dependent hazard through lesion persistence, replication encounter, mutagenesis, and BER-mediated formation of repair-generated DSBs. This review integrates radiation chemistry, lesion-specific BER, defined-substrate studies, irradiation-based measurements, mutational outcomes, and track-structure modeling across the causal sequence from lesion formation to mutation. A structured, non-exhaustive evidence map showed that direct pairwise evidence occupied only 12.1–19.1% of lesion-pair categories across five inclusion scenarios; in the full 18-lesion ontology, 30 of 171 categories had direct pairwise support. These values describe coverage within the review-specific classification and search record, not biological lesion-pair frequencies. Defined-substrate studies provide configuration-specific mechanistic evidence, whereas irradiation-based assays retain biological context but generally lack complete lesion and repair-history resolution, and genome-wide sequencing records survival-conditioned mutational outcomes without identifying the initiating cluster. Together, the available evidence defines which lesion attributes, BER intermediates, contextual modifiers, and validation endpoints can currently constrain lesion-resolved state-transition models and where inference and uncertainty remain unavoidable. It also delineates the present limits of attributing cancer or other tissue-level health effects to specific non-DSB clustered configurations.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108609"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149013212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New insights into the role of TWIST1 in breast cancer progression and metastasis","authors":"Kamel A. Saleh,&nbsp;Renuka Jyothi S,&nbsp;Priya Priyadarshini Nayak,&nbsp;Laith Saheb,&nbsp;Amaal Mohammed Ali,&nbsp;Vimal Arora,&nbsp;Ashish Singh Chauhan,&nbsp;Gunjan Garg,&nbsp;Saeed Niazi Vahdati","doi":"10.1016/j.mrrev.2026.108606","DOIUrl":"10.1016/j.mrrev.2026.108606","url":null,"abstract":"<div><div>The transcription factor TWIST1 plays a fundamental role in the regulation of breast cancer initiation, progression, metastasis, and resistance to treatment. As a prominent driver of epithelial–mesenchymal transition (EMT), TWIST1 promotes phenotypic plasticity in cancer cells, enabling enhanced invasion, migration, and metastatic colonization. In addition, TWIST1 supports the maintenance of cancer stem cell (CSC) traits, which contribute to intratumoral heterogeneity and the likelihood of tumor relapse. Abnormal activation of TWIST1 stimulates stemness-related programs through the regulation of essential signaling pathways and stem cell markers, thereby functionally linking EMT with mechanisms of self-renewal and therapeutic resistance. The regulation of TWIST1 is highly complex and occurs at multiple levels, including epigenetic control, non-coding RNA-mediated regulation, transcriptional modulation, and post-translational modifications. Interactions with major oncogenic signaling cascades and signals originating from the tumor microenvironment further enhance its contribution to cancer progression. Increasing clinical evidence indicates that elevated TWIST1 expression is associated with poor clinical outcomes, higher metastatic burden, and reduced treatment efficacy, emphasizing its importance as a prognostic biomarker and a potential therapeutic target in breast cancer management.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"798 ","pages":"Article 108606"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149018563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elucidation of the pathogenesis of peroxisome biogenesis disorders (PBDs): From molecular mechanisms to diagnosis-therapy linkages and AI-assisted potential","authors":"Rongke Xiang,&nbsp;Minggao Jiang,&nbsp;Hanrui Xu,&nbsp;Ying-Qiang Shen","doi":"10.1016/j.mrrev.2025.108579","DOIUrl":"10.1016/j.mrrev.2025.108579","url":null,"abstract":"<div><div>Peroxisomes are essential, highly conserved organelles in eukaryotic cells, with well-characterized roles in fatty acid β-oxidation, ether phospholipid (a key component of myelin lipid) synthesis, and maintaining redox homeostasis. Peroxisomal disorders primarily arise from abnormalities in peroxisome biogenesis or degradation, as well as enzyme deficiencies, often with genetic mutations serving as their underlying drivers. To date, effective therapeutic strategies for these disorders remain scarce. This review focuses on elucidating the pathogenesis of peroxisome biogenesis disorders (PBDs), while also clarifying the diagnostic and therapeutic approaches for PBDs specifically. It also includes a brief discussion on the role of artificial intelligence (AI) in the management of these disorders. This ultimately aims to provide a theoretical basis and practical reference for future clinical interventions.</div></div>","PeriodicalId":49789,"journal":{"name":"Mutation Research-Reviews in Mutation Research","volume":"797 ","pages":"Article 108579"},"PeriodicalIF":4.2,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145783446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}