Molecular medicine reports最新文献

{"title":"Metabolic syndrome in patients with schizophrenia: Underlying mechanisms and therapeutic approaches (Review).","authors":"Aspasia Manta, Anastasia Georganta, Afroditi Roumpou, Vassilis Zoumpourlis, Demetrios A Spandidos, Emmanouil Rizos, Melpomeni Peppa","doi":"10.3892/mmr.2025.13479","DOIUrl":"10.3892/mmr.2025.13479","url":null,"abstract":"<p><p>Schizophrenia (SCZ) represents a considerable health concern, not only due to its impact on cognitive and psychiatric domains, but also because of its association with metabolic abnormalities. Individuals with SCZ face an increased risk of developing metabolic syndrome (MS), which contributes to the increased cardiovascular burden and reduced life expectancy observed in this population. Metabolic alterations are associated with both the SCZ condition itself and extrinsic factors, particularly the use of antipsychotic medications. Additionally, the link between SCZ and MS seems to be guided by distinct genetic parameters. The present narrative review summarizes the relationship between SCZ and MS and emphasizes the various therapeutic approaches for managing its components in patients with these conditions. Recommended therapeutic approaches include lifestyle modifications as the primary strategy, with a focus on behavioral lifestyle programs, addressing dietary patterns and physical activity. Pharmacological interventions include administering common antidiabetic medications and the selection of less metabolically harmful antipsychotics. Alternative interventions with limited clinical application are also discussed. Ultimately, a personalized therapeutic approach encompassing both the psychological and metabolic aspects is essential for the effective management of MS in patients with SCZ.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibrosis factor CTGF facilitates VCAM‑1‑dependent monocyte adhesion to osteoarthritis synovial fibroblasts via the FAK and JNK pathways.","authors":"Shan-Chi Liu, Yat-Yin Law, Yu-Ying Wu, Yuan-Li Huang, Chun-Hao Tsai, Wei-Cheng Chen, Chih-Hsin Tang","doi":"10.3892/mmr.2025.13489","DOIUrl":"10.3892/mmr.2025.13489","url":null,"abstract":"<p><p>Osteoarthritis (OA) is a long‑term, degenerative joint disease that presents significant clinical challenges and imposes considerable financial burdens. Fibrosis is closely intertwined with the pathogenesis of various degenerative diseases, including OA. Using data from the GDS5401 dataset, the present study determined that expression levels of the fibrosis factor connective tissue growth factor (CTGF) were significantly higher in OA patients than in normal individuals. The present study also identified CTGF elevated expression levels in both OA patients compared with healthy controls and in rats with anterior cruciate ligament transection‑induced OA versus controls. Stimulating OA synovial fibroblasts (OASFs) with CTGF was shown to promote vascular cell adhesion molecule‑1 (VCAM‑1) production, thereby facilitating monocyte adhesion to OASFs. Analysis of a large dataset revealed that monocytes are the only mononuclear cells with significantly elevated levels in OA patients. It also appeared that CTGF‑induced VCAM‑1 production and monocyte adhesion were mediated via the focal adhesion kinase and JNK pathways. These findings suggest that CTGF contributes to OA progression by enhancing monocyte adhesion to the synovial membrane.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Salidroside ameliorates lipopolysaccharide‑induced ferroptosis in chondrocytes via regulation of the sirt1/foxo1 axis.","authors":"Xu Zhang, Ling Huang, Wenjun Feng, Danghan Xu, Yirong Zeng","doi":"10.3892/mmr.2025.13502","DOIUrl":"https://doi.org/10.3892/mmr.2025.13502","url":null,"abstract":"<p><p>Salidroside (SAL) is a bioactive constituent extracted from <i>Rhodiola rosea</i> plant and exerts antioxidant and anti‑inflammatory properties. However, understanding of SAL for the treatment of arthritis is limited. The aim of the present study was to investigate whether SAL treats lipopolysaccharide (LPS)‑induced chondrocyte injury by modulating the sirt1 silent information regulator 1)/FoxO1 (forkhead transcription factors O1) signaling pathway. Network pharmacology was used to screen the potential pathway of SAL for the treatment of osteoarthritis via the ferroptosis pathway. Subsequently, a chondrocyte inflammation model was established <i>in vitro</i> using LPS and SAL was used as a drug treatment. Effects of SAL treatment of chondrocytes was evaluated by western blot analysis, fluorescence, cell viability and oxidative assay. Analysis revealed that SAL significantly attenuated LPS‑induced apoptosis and accumulation of oxides in chondrocytes, thereby protecting the integrity of cartilage extracellular matrix. In addition, SAL promoted the activation of the sirt1/foxo1 signaling cascade, which alleviated LPS‑induced ferroptosis in chondrocytes. The present study demonstrated that SAL attenuated LPS‑induced chondrocyte ferroptosis by regulating the sirt1/foxo1 pathway. This may provide a potential therapeutic avenue for cartilage damage in osteoarthritis.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143720658","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Water extract of <i>Humulus japonicus</i> improves age‑related cognitive decline by inhibiting acetylcholinesterase activity and the acetylcholine signaling pathway.","authors":"Ju-Eun Kim, Kyeong-Seon Min, Jun Go, Hye-Yeon Park, Young-Keun Choi, In-Bok Lee, Jaewon Shin, Hyun-Ju Cho, Hong-Sik Kim, Dae Youn Hwang, Won-Keun Oh, Kyoung-Shim Kim, Chul-Ho Lee","doi":"10.3892/mmr.2025.13496","DOIUrl":"10.3892/mmr.2025.13496","url":null,"abstract":"<p><p>The aging process is associated with a decline in certain cognitive abilities, including learning and memory. This age‑related cognitive decline is associated with a reduction in neurogenesis and alterations in the cholinergic system. <i>Humulus japonicus</i> (HJ), an ornamental plant in the family <i>Cannabaceae</i>, has been reported to exert beneficial effects against neurodegenerative pathophysiologies in mouse models of disorders such as Alzheimer's and Parkinson's disease. Despite the increasingly aging populations of numerous societies, no study has yet investigated the effects of HJ on cognitive decline associated with normal aging. The present study therefore aimed to examine the protective potential of HJ water (HJW) extract against age‑related cognitive decline and scopolamine‑induced cognitive impairment. The analyses revealed that the oral administration of HJW markedly improved novel objective recognition and spatial learning in the novel object recognition and Morris water maze tests, respectively, in aged mice. The administration of 600 mg/kg HJW further increased neurogenesis and CA1 thickness in the hippocampi of aged mice. In scopolamine‑induced cognitive impairment, administration of 400 or 600 mg/kg HJW markedly increased novel object recognition performance in scopolamine‑treated mice. The inhibitory effect of HJW on acetylcholinesterase (AChE) and the activation effects of HJW on the calcium/calmodulin‑dependent kinase (CaMK)IIα‑cAMP response element‑binding protein (CREB) and AKT‑glycogen synthase kinase‑3 β (GSK3β) pathways were further demonstrated. Overall, these results indicate that HJW administration improves cognitive function through the regulation of AChE activity and CaMKIIα‑CREB and AKT‑GSK3β pathways.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938412/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"N‑methyladenosine reader YTHDF2‑mediated AC026691.1 degradation promotes gastric cancer cell proliferation, migration and M2 macrophage polarization.","authors":"Cong-Fei Ji, Jin-Feng Ji, Xiao-Bing Yu, Zhen-Xin Wang","doi":"10.3892/mmr.2025.13485","DOIUrl":"10.3892/mmr.2025.13485","url":null,"abstract":"<p><p>The present study aimed to explore the effects of key N6‑methyladenosine (m6A)‑related long non‑coding RNAs (lncRNAs) on the malignant behavior and macrophage polarization of gastric cancer cells, and their preliminary mechanisms. Gastric cancer‑related lncRNA datasets were downloaded from The Cancer Genome Atlas database, and m6A‑related differentially expressed lncRNAs (DElncRNAs) were analyzed. Subsequently, Cox regression and lasso regression analyses were used to screen the m6A‑related DElncRNAs associated with the prognosis of patients with gastric cancer. Additionally, reverse transcription‑quantitative polymerase chain reaction (qPCR) was employed to detect the expression levels of m6A‑related lncRNAs in normal gastric epithelial cells (GES‑1) and human gastric cancer cells (AGS and MKN‑45). In addition, the methylation levels of lncRNAs were measured using a methylated RNA immunoprecipitation qPCR assay kit, and the interaction between m6A‑related lncRNAs and m6A‑related proteins was observed by RNA pull‑down assay. Subsequently, m6A‑related lncRNAs and proteins were knocked down separately or simultaneously in gastric cancer cell lines. Bioinformatics analysis revealed that m6A‑related AC026691.1 was significantly associated with the prognosis of patients with gastric cancer and had a potential binding site for YT521‑B homology domain family member 2 (YTHDF2). The RNA pull‑down assay indicated that YTHDF2 not only had binding sites with AC026691.1 but could also markedly promote the degradation of m6A‑related AC026691.1. Furthermore, AC026691.1 was lowly expressed in gastric cancer cells, whereas YTHDF2 was highly expressed. Knockdown of YTHDF2 inhibited the proliferation, migration and epithelial‑mesenchymal transition of gastric cancer cells, and reduced M2 macrophage polarization. By contrast, knocking down AC026691.1 showed the opposite trend. Knockdown of YTHDF2 and AC026691.1 further confirmed the stable impact of YTHDF2 on AC026691.1. In conclusion, the degradation of AC026691.1 modified by YTHDF2‑mediated m6A may promote gastric cancer cell proliferation, migration, epithelial‑mesenchymal transition and M2 macrophage polarization.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11914866/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LncPrep + 96kb inhibits ovarian fibrosis by upregulating prolyl oligopeptidase expression.","authors":"Hongdan Zhang, Jing Wang, Jianwei Liu, Xiang Fan, Yinuo Jia, Yingtong Huang, Qihui Han, Shimeng Wang, Li Xiao, Xiang Li, Chunping Zhang","doi":"10.3892/mmr.2025.13478","DOIUrl":"10.3892/mmr.2025.13478","url":null,"abstract":"<p><p>LncPrep + 96kb is a long non‑coding RNA expressed in murine granulosa cells. The 2.2-kb fragment of lncPrep + 96kb inhibits aromatase expression and estrogen secretion in ovarian granulosa cells. In the present study, lncPrep + 96kb‑knockout (KO) mice were generated, and significant ovarian fibrosis and reduced female fertility through fertility monitoring and superovulation. The augmentation of ovarian fibrosis was observed by Sirius red staining and western blot and <i>RT‑qPCR</i>. Notably, lncPrep + 96kb was identified in conserved non‑coding sequences adjacent to the prolyl oligopeptidase (POP) gene. Furthermore, POP expression was shown to be reduced in lncPrep + 96kb‑KO mice, whereas overexpression of lncPrep + 96kb increased POP expression. Further studies revealed that POP regulated the expression levels of factors related to fibrosis, including matrix metalloproteinase 2 (MMP2), transforming growth factor β1 (TGF‑β1) and peroxisome proliferator activated receptor γ (PPAR‑γ). In conclusion, ovarian fibrosis was elevated in lncPrep + 96kb‑KO mice, and POP may act as a target of lncPrep + 96kb, which mediates ovarian fibrosis through the regulation of PPAR‑γ, MMP2 and TGF‑β1 expression.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11894593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigating the molecular mechanism of purslane‑based vitiligo treatment using network pharmacology, molecular docking and <i>in vitro</i> analyses.","authors":"Xueying Zhang, Lele Meng, Xiaorong Ran, Shuang Li, Changhui Wen","doi":"10.3892/mmr.2025.13482","DOIUrl":"10.3892/mmr.2025.13482","url":null,"abstract":"<p><p>Purslane is a traditional Chinese medicine with a long‑standing history of efficacy in the management of dermatological conditions such as vitiligo. However, the molecular mechanisms underlying its therapeutic effects on vitiligo remain unclear. Therefore, the present study explored these mechanisms using network pharmacology, molecular docking and <i>in vitro</i> experiments. Following the screening process, seven principal active components were identified, namely kaempferol, hesperetin, luteolin, quercetin, arachidonic acid, cycloartenol and β‑sitosterol. In addition, six key targets, namely AKT1, tumor protein p53, peroxisome proliferator‑activated receptor γ (PPARG), estrogen receptor 1, prostaglandin‑endoperoxidase synthase 2 and mitogen‑activated protein kinase 1, and eight pathways in purslane‑based vitiligo treatment were identified. Network pharmacology and molecular docking demonstrated that flavonoids are the key components of purslane likely to mitigate oxidative stress damage in vitiligo. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses revealed that the phosphatidylinositol 3‑kinase (PI3K)/AKT, p53 and PPARG signaling pathways are associated with purslane components and vitiligo. <i>In vitro</i> experiments revealed that purslane total flavones (PTF) increased cell viability, decreased ROS levels and increased antioxidant enzyme activities in H₂O₂‑induced B16F10 cells. In addition, PTF activated the PI3K/AKT signaling pathway in H₂O₂‑induced B16F10 cells, and the antioxidant effect of PTF was attenuated by a PI3K/AKT inhibitor. In conclusion, the findings of the present study suggest that the flavonoids of purslane contribute, at least in part, to its therapeutic effectiveness in vitiligo by mitigating oxidative stress in melanocytes through the PI3K/AKT signaling pathway.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11905198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of multi‑omics in advancing the understanding and treatment of prostate cancer (Review).","authors":"Li Yan, Pengxiao Su, Xiaoke Sun","doi":"10.3892/mmr.2025.13495","DOIUrl":"10.3892/mmr.2025.13495","url":null,"abstract":"<p><p>The application of multi‑omics methodologies, encompassing genomics, transcriptomics, proteomics, metabolomics and integrative genomics, has markedly enhanced the understanding of prostate cancer (PCa). These methods have facilitated the identification of molecular pathways and biomarkers crucial for the early detection, prognostic evaluation and personalized treatment of PCa. Studies using multi‑omics technologies have elucidated how alterations in gene expression and protein interactions contribute to PCa progression and treatment resistance. Furthermore, the integration of multi‑omics data has been used in the identification of novel therapeutic targets and the development of innovative treatment modalities, such as precision medicine. The evolving landscape of multi‑omics research holds promise for not only deepening the understanding of PCa biology but also for fostering the development of more effective and tailored therapeutic interventions, ultimately improving patient outcomes. The present review aims to synthesize current findings from multi‑omics studies associated with PCa and to assess their implications for the improvement of patient management and therapeutic outcomes. The insights provided may guide future research directions and clinical practices in the fight against PCa.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11938414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of natural killer cell‑conditioned medium on UVB‑induced photoaging in human keratinocytes and a human reconstructed skin model.","authors":"Jung Ok Lee, Jung Min Lee, Yujin Kim, A Yeon Park, Daewon Yoon, Su Young Kim, Jihye Heo, Seungryel Han, Hyungjin Nam, Hye Jin Shin, Kyeongsoo Jeong, Minju Im, Beom Joon Kim","doi":"10.3892/mmr.2025.13488","DOIUrl":"10.3892/mmr.2025.13488","url":null,"abstract":"<p><p>Natural killer (NK) cells produce various cytokines, including interleukin (IL)‑1β, IL‑6, IL‑10, IL‑12, interferon γ, tumor necrosis factor α and transforming growth factor β, which are critical in modulating immune responses. NK cell‑conditioned medium (NK‑CdM), rich in cytokines, has potential applications in therapy and healing. The present study aimed to investigate the protective effect of NK‑CdM against ultraviolet B (UVB)‑mediated photoaging using <i>in vitro</i> and <i>ex vivo</i> models. In human keratinocyte cell line (HaCaT cells), NK‑CdM mitigated UVB‑induced cytotoxicity and suppressed the production of reactive oxygen species. NK‑CdM enhanced the mRNA expression levels of superoxide dismutase 1 (SOD1) and catalase (CAT) and inhibited the reduction in SOD1 and CAT expression levels caused by UVB irradiation. Furthermore, NK‑CdM inhibited the UVB‑mediated nuclear translocation of nuclear factor erythroid 2‑related factor 2. NK‑CdM also prevented UVB‑induced downregulation of filaggrin and involucrin and attenuated the UVB‑induced reduction in hyaluronan synthase (HAS)1, HAS2, HAS3, aquaporin‑3 and hyaluronan levels. Notably, NK‑CdM upregulated the expression of elongation of very long chain fatty acids (ELOVL) enzymes, including ELOVL1, ELOVL5 and ELOVL6, as well as ceramide synthases (CerS), specifically CerS2 and CerS3. Furthermore, NK‑CdM inhibited the UVB‑induced reduction in the levels of these proteins. Overall, these findings suggested that NK‑CdM has the potential to prevent UVB‑mediated photoaging and promote skin health.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11920773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review).","authors":"Ankang Yin, Qiuyu Zhu, Yi Chen, Juan Wang","doi":"10.3892/mmr.2025.13499","DOIUrl":"10.3892/mmr.2025.13499","url":null,"abstract":"<p><p>The formation of mature mRNA is inseparable from the processing of RNA precursors and splicing by the spliceosome. The spliceosome is a multi‑protein complex composed of five small nuclear ribonucleoproteins. Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is a component of spliceosome complex that is involved in the reorganization of the spliceosome complex, thereby promoting the removal of introns from precursor mRNA. Therefore, EFTUD2 can regulate embryonic development and innate immunity by modulating the splicing of various mRNAs. The mutations in EFTUD2 itself also lead to developmental defects and clinical manifestations in mandibulofacial dysostosis, the nervous system, the circulatory system, the digestive system and the reproductive system. Furthermore, the overexpression of EFTUD2 promotes the progression of hepatocellular carcinoma, breast cancer and colorectal cancer. The present review discussed the molecular mechanisms by which EFTUD2 exerts its physiological functions, focusing on EFTUD2 mutations and their corresponding clinical manifestations. It aimed to provide insight for the diagnosis and treatment of EFTUD2‑related diseases.</p>","PeriodicalId":18818,"journal":{"name":"Molecular medicine reports","volume":"31 5","pages":""},"PeriodicalIF":3.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11948986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}