Biochemical Genetics最新文献

{"title":"GLP-1 Mitigated Inflammation and Oxidative Stress in Oral Lichen Planus Via JAK-STAT3 Pathway.","authors":"Yaxuan Liu, Ning Liu, Wenjing Wang, Rongxia Zhang, Xiaoying Liu, Liwei Wu, Chencong Li","doi":"10.1007/s10528-026-11332-2","DOIUrl":"https://doi.org/10.1007/s10528-026-11332-2","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146130835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcriptional Reprogramming of Lifespan-Associated Genes in Yeast Lacking TOR1.","authors":"Tülay Turgut Genç, Melih Günay","doi":"10.1007/s10528-026-11330-4","DOIUrl":"https://doi.org/10.1007/s10528-026-11330-4","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146130865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Voltage-Gated Sodium Channel Na_V1.2: Structural Perspective of the Genetic Variability.","authors":"Tomás Oliveira-Madureira, Bárbara Leal, Luísa Azevedo","doi":"10.1007/s10528-026-11327-z","DOIUrl":"https://doi.org/10.1007/s10528-026-11327-z","url":null,"abstract":"<p><p>The SCN2A gene encodes the alpha subunit of a voltage-gated sodium channel which is necessary for creating and propagating action potentials in neurons. Impairment of the Na_v1.2 function is associated with neurodevelopmental disorders such as Developmental and Epileptic Encephalopathy, Self-limited Neonatal/Infantile Seizures, and Autism Spectrum Disorder. In this study, we used orthologous sequence comparisons, as well as disease associated variants to analyze their location in the structure of Na_v1.2, with the aim of understanding the impact of genetic variants in the structure of this protein at an evolutionary and clinical level. Our analyses reveal different spatial distribution of interspecific variation where different residues locate preferentially in the first cytoplasmic linker, while disease-associated variants tend to cluster in the voltage-sensing segments of the protein domains. Altogether, these discoveries point to structurally important segments in the Na_v1.2 structure that have been conserved through evolution due to their role in maintaining the function of the channel.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"pCancer and FOXK2 (Forkhead Box K2): Oncogenic and Tumor-Suppressive Roles of FOXK2 in Cancer.","authors":"Seyda Akin, İbrahim Ozturk, Ceylan Hepokur","doi":"10.1007/s10528-026-11320-6","DOIUrl":"https://doi.org/10.1007/s10528-026-11320-6","url":null,"abstract":"<p><p>Cancer is the second leading cause of death in both developed and developing countries. In cancer cells, hemostasis is disrupted, a process that is maintained under normal conditions in healthy cells. Transcription factors that play a crucial role in preserving this hemostasis have been linked to cancer. In recent years, the involvement of proteins from the FOX transcription factor family in cancer development has been extensively studied, highlighting their potential relevance for therapeutic research. Although one of these proteins, Forkhead Box K2 (FOXK2), was identified in the early 1990s, its biological functions in cellular processes remain incompletely understood. Research has highlighted the roles of FOXK2 in critical molecular processes, including de novo nucleotide synthesis, the expression of metabolic-related enzymes, DNA mismatch repair, cell proliferation, differentiation, apoptosis, and autophagy. Furthermore, it has been shown that FOXK2 mediates the binding of transcription factors that do not directly interact with methylated DNA to methylated regions, and also influences the DNA methylation process. Studies investigating its role in cancer indicate that FOXK2 functions as an oncogenic in certain tissues while acting as a tumor suppressor in others. The role of FOXK2 is particularly controversial, especially in hormone-dependent diseases. In this review, the roles of FOXK2 in various cancer cell types were analysed. Additionally, Gene Ontology (GO) enrichment analyses of miRNAs targeting FOXK2 were conducted, highlighting aspects of FOXK2 that have yet to be explored. GO analysis revealed that miRNAs targeting FOXK2 are particularly involved in regulatory processes. In conclusion, FOXK2 may represent a potential therapeutic target in certain cancer types, although its context-dependent roles require further investigation.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA Methylation-Guided Prediction and Validation of TAAD Molecular Targets.","authors":"Mengyao Sha, Qianying Wang, Qiwen Hu, Danlingyi Liu, Chang Liu","doi":"10.1007/s10528-026-11324-2","DOIUrl":"https://doi.org/10.1007/s10528-026-11324-2","url":null,"abstract":"<p><p>Thoracic aortic aneurysms and dissection are pivotal cardiovascular conditions necessitating accurate diagnostics. DNA methylation, a crucial epigenetic mediator, is implicated in early disease biomarkers. Our analysis of GSE84274 and GSE202047 datasets pinpointed 498 DEGs with promoter DMPs and DMRs. Outliers were detected via DIvisive ANAlysis (DIANA) and Orthogonal Projection to Latent Structures-Discriminant Analysis (OPLS-DA) (P < 0.05). Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses emphasized vascular and TNF signaling. Utilizing the Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) database, Nuclear Receptor Subfamily 2 Group F Member 2 (NR2F2) and GATA-Binding Protein 2 (GATA2) were identified as core differentially expressed genes (DEGs). Transcriptomic validation confirmed that promoter methylation modulates transcriptional activity (P < 0.05). Enzyme-Linked Immunosorbent Assay (ELISA) indicated heightened 5-mC levels in β-aminopropionitrile (BAPN)-challenged mice (P < 0.05), and Reverse Transcription-Polymerase Chain Reaction (RT-PCR) confirmed the modulation of DNA Methyltransferase 3 Alpha (DNMT3A), DNMT3B, NR2F2, and GATA2. Methylation-Specific PCR (MSP) and Bisulfite Sequencing PCR (BSP) substantiated the hypermethylation of NR2F2 and GATA2 promoters in TAAD (P < 0.05). Our study correlates heightened promoter methylation of NR2F2 and GATA2 with TAAD, proposing them as novel diagnostic biomarkers.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omics Analysis Reveals the Prognostic and Therapeutic Value of TGF-β Signaling-related Genes in Idiopathic Pulmonary Fibrosis.","authors":"Chenkun Fu, Xiaoting Jing, Menglin Zhang, Yiju Cheng, Wenting Yang, Xiao Wu, Xiaojuan Chu, Xiaofeng Lu","doi":"10.1007/s10528-026-11325-1","DOIUrl":"https://doi.org/10.1007/s10528-026-11325-1","url":null,"abstract":"<p><p>Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease with a survival rate comparable to or worse than that of many cancers. Proper TGF-β signaling is essential for normal lung function, but its disruption plays a key role in pulmonary fibrosis and cancer progression. This study aims to elucidate the role of TGF-β signaling-related genes in the prognosis and treatment of IPF through multi-omics analysis. We obtained datasets from the GEO database and identified differentially expressed genes, followed by enrichment analyses. Core genes were identified using machine learning algorithms. Next, we evaluated the expression of core genes and their predictive ability for IPF, as well as their relationship with lung function and survival time. Then, mendelian randomization revealed core genes causally associated with IPF. Subsequently, pseudotime analysis, cell communication analysis and metabolic analysis were performed using single-cell data. Furthermore, we performed immune infiltration analysis to reveal the immune microenvironment of IPF. Finally, in vivo experiments validated the mRNA expression of the core genes. Two core genes (ACVRL1 and LTBP1) were identified through differential expression analysis and machine learning algorithms. Validation using multiple external datasets confirmed that these core genes exhibit stable expression patterns and have strong predictive ability for IPF patients. Further analysis revealed that the expression of these core genes correlates with lung function and survival time in IPF patients. Mendelian randomization analysis provided evidence of a causal link between ACVRL1 and IPF. Using eQTLGen data, our summary data-based mendelian randomization (SMR) analysis revealed a possible causal link between ACVRL1 and IPF. Similarly, using GTEx eQTL data, our SMR analysis revealed a potential causal link between ACVRL1 and IPF. Furthermore, single-cell data analysis highlighted differences in cell communication and metabolism between ACVRL1 + endothelial cell (EC) and ACVRL1-EC. Finally, RT-qPCR results support the potential role of core genes in IPF. This study provides new perspectives on the development of IPF and may help identify novel therapeutic targets. Further research may reveal how core genes influence cellular function and disease progression, providing novel insights into the intricate mechanisms underlying IPF.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polymorphisms in SOD2 and SOD3 Genes are Associated with Dental Caries in Primary Dentition of Brazilian Children.","authors":"Thaís de Oliveira Fernandes, Dalila Ferreira Silvano de Moura, Erika Calvano Küchler, Allan Abuabara, Flares Baratto-Filho, Fernanda Volpe de Abreu, Leonardo Santos Antunes, Lívia Azeredo Alves Antunes","doi":"10.1007/s10528-025-11092-5","DOIUrl":"10.1007/s10528-025-11092-5","url":null,"abstract":"<p><p>To investigate the association of polymorphisms in the SOD2 (rs5746136, rs10370, and rs4880) and SOD3 (rs2855262, and rs13306703) genes and dental caries in primary dentition. This cross-sectional study included 753 children aged from 2 to 6 years in primary dentition from 33 public preschools in Nova Friburgo, Rio de Janeiro, Brazil. Covariates such as gender and body mass index were collected. Dental caries experience was evaluated using WHO (2013) criteria. Phenotypes were classified as absence (dmft = 0), presence (dmft ≥ 1) or high caries experience (dmft ≥ 5). Genotyping of the selected polymorphisms was carried out by TaqMan real-time PCR using genomic DNA extracted from buccal cells. Allele and genotype frequencies in recessive, co-dominant and dominant models were compared between phenotype groups. Covariates did not influence on caries experience in any phenotype analyzed. The allele C in rs2855262 (SOD3) presented association with high dental caries experience (dmft ≥ 5) (p = 0.04). The polymorphisms rs5746136 (SOD2) and rs2855262 (SOD3) presented association with caries experience (respectively, dmft ≥ 1 and dmft ≥ 5) in recessive models (p = 0.02). The findings suggest that polymorphisms in SOD2 (rs5746136) and SOD3 (rs2855262) genes are associated with dental caries experience in children with primary dentition. The cross-sectional study design presents known limitations, such as the inability to establish causal relationships. Therefore, the findings of this study should be interpreted with caution, and further is needed to confirm the results and investigate the function of these genes function and their involvement in dental caries and other oral conditions. Altered salivary oxidative stress biomarkers, influenced by genetic variations, play a significant role in the development of dental caries. It emphasizes the importance of genetic screening in oral health assessments. Understanding the SOD2 and SOD3 polymorphisms, could pave the way for personalized preventive strategies and targeted therapeutic interventions in pediatric dentistry.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"1456-1473"},"PeriodicalIF":1.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143961164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.","authors":"Sheyda Khalilian, Mohadeseh Fathi, Mona Alizadeh, Fatemeh Larki Darabi, Shadab Salehpour, Saeed Anvari, Mohammad Miryounesi, Soudeh Ghafouri-Fard","doi":"10.1007/s10528-025-11090-7","DOIUrl":"10.1007/s10528-025-11090-7","url":null,"abstract":"<p><p>Gangliosidosis is a hereditary metabolic disorder inherited in an autosomal recessive manner. This disorder is marked by the accumulation of gangliosides in the central nervous system, leading to considerable and progressive neurological deficits. In the current study, we described the clinical findings and genetic variations observed in 12 patients manifesting symptoms of gangliosidosis disorders. The results of molecular investigations revealed the presence of different variants in the HEXA (three cases), HEXB (four cases) and GLB1 genes (five cases) in the patients. Notably, the c.833C > T (p.A278V) variant in the HEXB was detected in two unrelated cases. Four novel variants were also detected, including two likely pathogenic variants in the HEXB gene, namely c.1083-2del and c.1616_1622dup (p.Ile541Metfs*14). A single case had three variants in the GLB1 gene, including two novel variants (c.545C > T and c.631G > C); and a previously reported pathogenic variant (c.601C > T). The current study broadens the spectrum of genetic variations in Iranian patients with different types of gangliosidosis. This information is also important for the process of genetic counseling in the affected families.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"1419-1432"},"PeriodicalIF":1.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Both Fetal and Maternal Genotypes Affect Preeclampsia Pathogenesis in Iranian Patients.","authors":"Veys Hashemnia, Hossein Sadeghi, Asal Honarpour, Kimia Dorraji, Nazanin Haririan, Yasaman Electriciteh, Reza Mirfakhraie","doi":"10.1007/s10528-025-11081-8","DOIUrl":"10.1007/s10528-025-11081-8","url":null,"abstract":"<p><p>Preeclampsia is a multifactorial disorder that only occurs during pregnancy. Several genome-wide association studies (GWASs) have revealed potential susceptible variants associated with preeclampsia in different populations. GWASs findings in other ethnicities must be replicated in order to confirm the observed genotype-phenotype association. Here, we performed a replication study to investigate the association of three previously reported genome-wide signals, including FLT1rs4769612, FTO rs1421085, and ZNF831 rs259983, with preeclampsia in the Iranian population. A total of 600 subjects were recruited for this study. The maternal group included 200 preeclamptic patients and 200 healthy normotensive pregnant women. The fetal group included 100 individuals born of preeclamptic pregnancies and 100 individuals born from healthy pregnancies. The tetra-primer amplification refractory mutation system-polymerase chain reaction (TP-ARMS PCR) technique was used for genotyping the rs4769612, rs1421085, and rs259983 variants. The fetal genotype of rs4769612 (FLT1) was associated with preeclampsia risk under the recessive inheritance model. Moreover, fetal rs1421085 (FTO) increased the risk of preeclampsia under dominant and over-dominant inheritance models. Regarding ZNF831 rs259983, only the maternal genotype was associated with preeclampsia under the dominant model, and no association was detected between the fetal genotype and the disease risk. Although the present results showed discrepancies with previous studies considering the association of maternal or fetal genotypes with preeclampsia, all three studied polymorphisms were related to the disease risk in the Iranian population. Based on our study, rs4769612, rs1421085, and rs259983 were associated with the risk of preeclampsia in the Iranian population.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"1201-1216"},"PeriodicalIF":1.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143623063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of the Variability, Genetic Diversity and Character Associations of Chrysanthemum (Dendranthema grandiflora Tzvelve) Based on Qualitative and Quantitative Traits.","authors":"G B Kavana, G K Seetharamu, Rajiv Kumar, D Satish, Amreen Taj, Amruta S Bhat, R Venugopalan","doi":"10.1007/s10528-025-11084-5","DOIUrl":"10.1007/s10528-025-11084-5","url":null,"abstract":"<p><p>Chrysanthemum (Dendranthema grandiflora Tzvelve) is one of the most widely cultivated herbaceous perennial flowering plants belonging to the Asteraceae family. Every year, many varieties are being added by the government and private agencies. Therefore, there is a wide range of variation, but very little attention has been given to its improvement. For effective selection, it is necessary to separate genetic variability from total variability, which will help breeders adopt suitable breeding programmes. There is a need for the identification of varieties suitable for growing in different agroclimatic conditions for specific purposes. Fifty genotypes of chrysanthemum were evaluated in a randomized complete block design during the year 2022 (Kharif) to determine genetic variability, heritability and genetic advance for different quantitative and qualitative traits. Analysis of variance revealed significant differences among genotypes for all the characteristics studied. The results revealed that the magnitude of the phenotypic coefficient of variation (PCV) was greater than that of the genotypic coefficient of variation (GCV) for all the traits, viz., the number of primary branches, number of secondary branches, duration of flowering, number of flowers per plant, weight of one hundred flowers, yield per plant, flower diameter, total number of ray florets per flower head, petiole length, shelf life and disc diameter, indicating genotype and environment interactions. Highest heritability coupled with genetic advance as a percentage mean was found for all the traits. The characteristics associated with high heritability with high genetic advancement as a percentage of the mean may be used as selection criteria in the genetic improvement of yield. Based on the analysis of genotypic and phenotypic correlations and path coefficients, it is suggested that an ideal Chrysanthemum genotype for achieving higher flower yield per plant should possess the following characteristics: increased plant height, longer petiole length, higher weight of 100 flowers and a greater number of flowers per plant. Therefore, selection based on these attributes would result in genetic advances in flower yield per plant.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":"1491-1511"},"PeriodicalIF":1.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143957693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}