Frontiers in Genetics最新文献

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Estimating the optimal number of samples to determine the effective population size in livestock. 估计最佳样本数量以确定牲畜的有效种群大小。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-03 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1588986
Arianna Manunza, Paolo Cozzi, Paul Boettcher, Ino Curik, Christian Looft, Licia Colli, Johann Sölkner, Gábor Mészáros, Alessandra Stella
{"title":"Estimating the optimal number of samples to determine the effective population size in livestock.","authors":"Arianna Manunza, Paolo Cozzi, Paul Boettcher, Ino Curik, Christian Looft, Licia Colli, Johann Sölkner, Gábor Mészáros, Alessandra Stella","doi":"10.3389/fgene.2025.1588986","DOIUrl":"10.3389/fgene.2025.1588986","url":null,"abstract":"<p><p>Effective population size (<i>Ne</i>) is a key parameter in various biological disciplines, including evolutionary biology, conservation genetics, and livestock breeding programs. When applying genomic approaches to estimate <i>Ne</i> or other indicators of genetic variation, sample size is among the critical factors that directly affect the balance between cost and precision. In this study, we investigated the impact of sample size on <i>Ne</i> estimates by analyzing data from previous genotyping studies and simulations. Our results suggest that a sample size of 50 animals is a reasonable approximation of the \"true\" (\"unbiased\") <i>Ne</i> value within the populations analyzed. While estimating the <i>Ne</i> value is an important starting point in population genetics, additional factors, such as the degree of inbreeding, population structure, and admixture, must be taken into account to obtain a comprehensive genetic evaluation and avoid misinterpretation. We conclude that linkage disequilibrium (LD)-based approaches are well suited for the estimation of <i>Ne</i> in livestock populations. However, careful interpretation of results is essential as current bioinformatics tools may introduce potential biases due to methodological assumptions, marker density, or population-specific factors.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1588986"},"PeriodicalIF":2.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12170570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 profiling and precision skin care: a review. 基因分析与精确皮肤护理:综述。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-03 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1559510
Barbara Geusens, Diala Haykal
{"title":"Genetic profiling and precision skin care: a review.","authors":"Barbara Geusens, Diala Haykal","doi":"10.3389/fgene.2025.1559510","DOIUrl":"10.3389/fgene.2025.1559510","url":null,"abstract":"<p><p>Skin aging is a multifaceted biological phenomenon driven by intrinsic and extrinsic factors, including genetics, hormonal changes, metabolic shifts, and environmental influences. Notably, genetic factors play a significant role, explaining up to 60% of the variability in how individuals age. Genes such as elastin (ELN), filaggrin (FLG), and melanocortin 1 receptor (MC1R) play pivotal roles in processes like elasticity, hydration, and pigmentation, directly impacting both intrinsic and extrinsic aging pathways. Understanding these genetic mechanisms is crucial for advancing personalized anti-aging products and therapies, particularly given the significant variability among individuals and ethnic groups. This review explores the current state of knowledge regarding the genetic determinants of skin aging, highlighting recent discoveries and proposing functional pathways for targeted interventions. Future directions are discussed to highlight the transformative potential of these innovations in clinical and aesthetic dermatology. While genetic factors may account for up to 60% of skin aging variability in specific populations, this figure should be interpreted with caution. It primarily reflects heritability under controlled conditions and does not negate the significant influence of modifiable lifestyle and environmental factors on skin and overall aging.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1559510"},"PeriodicalIF":2.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12170653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 clinical application and challenges of preimplantation genetic testing. 胚胎植入前基因检测的临床应用与挑战。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1599088
Fan Zhou, Xinlian Chen, Shanling Liu, Xiaodong Wang
{"title":"The clinical application and challenges of preimplantation genetic testing.","authors":"Fan Zhou, Xinlian Chen, Shanling Liu, Xiaodong Wang","doi":"10.3389/fgene.2025.1599088","DOIUrl":"10.3389/fgene.2025.1599088","url":null,"abstract":"<p><p>Preimplantation genetic testing (PGT) has rapidly advanced due to the significant development of genetic testing technologies. As an integration of genetic testing and assisted reproductive technology (ART), PGT plays a pivotal role in the primary prevention of birth defects, mainly chromosomal abnormalities and monogenic disease with known pathogenic variants. Blastocyst biopsy entails the collection of a relatively higher number of cells compared to other methods. Thereafter, whole genome amplification (WGA) generates a substantially larger amount of DNA templates, enabling more accurate subsequent genetic analyses. As an evolving technique that continues to be improved, the inherent limitations of WGA are expected to be minimized in the near future. Despite the widespread application of genetic techniques to WGA products, challenges remain in the downstream detection of small-fragment copy number variations (CNVs) (particularly those <1 Mb), the inability of long-read sequencing to resolve haplotypes or determine the position and orientation of micro-duplications for specific genomic sequences. Additionally, identifying complex or cryptic structures of balanced chromosomal rearrangements in prospective parents with a history of adverse pregnancy outcomes represents an urgent and challenging task, which would facilitate the pre-testing evaluation of PGT indications. Meanwhile, further assessment of the risks associated with transferring embryos with mosaic chromosome abnormalities, the implantation potential of euploid embryos, as well as the long-term health outcomes of children born following PGT requires more rigorously designed studies to provide robust evidence. The technology of PGT will continue to evolve, becoming increasingly comprehensive and precise. However, this technology should be applied strictly in accordance with legislation and ethical guidelines, with the ultimate aim of benefiting couples.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1599088"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 genetic data to kinship clarity: employing machine learning for detecting incestuous relations. 从基因数据到亲属关系清晰度:利用机器学习检测乱伦关系。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1578581
Dejan Šorgić, Aleksandra Stefanović, Mladen Popović, Dušan Keckarević
{"title":"From genetic data to kinship clarity: employing machine learning for detecting incestuous relations.","authors":"Dejan Šorgić, Aleksandra Stefanović, Mladen Popović, Dušan Keckarević","doi":"10.3389/fgene.2025.1578581","DOIUrl":"10.3389/fgene.2025.1578581","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to develop a predictive model based on STR profiles of mothers and children for the detection of incestuous conception.</p><p><strong>Methods: </strong>Based on allele frequency data from the USA and Saudi Arabia, STR profiles were generated and used to simulate offspring profiles corresponding to father-child and brother-sister incest scenarios. Model training and evaluation were performed using the STR profiles of the mother and child. In addition to the baseline model, we examined its performance under a one-step mutation model, as well as its ability to detect incestuous relationships based solely on the child's STR profile. Several machine learning algorithms and neural networks were tested for classification accuracy.</p><p><strong>Results: </strong>The CatBoost algorithm performed best in the binary classification of Normal Paternity vs. Incest Kinship. For the USA, we achieved the following results: 96.94% for 29 markers and 95% for 21 markers. The same accuracy was obtained with a single-step mutation, while prediction based on child profiles exclusively yielded an accuracy of 90.37% in the U.S. population. When analysing profiles from Saudi Arabia and modified Saudi frequencies, an accuracy of 94% was achieved.</p><p><strong>Discussion: </strong>It was established that population structure does not affect the model's accuracy and that it can be applied even in isolated populations.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1578581"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genome-wide association study for feed efficiency indicator traits in Nellore cattle considering genotype-by-environment interactions. 考虑基因型-环境相互作用的内洛牛饲料效率指标性状全基因组关联研究
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1539056
João B Silva Neto, Luiz F Brito, Lucio Flavio M Mota, Claudio U Magnabosco, Fernando Baldi
{"title":"Genome-wide association study for feed efficiency indicator traits in Nellore cattle considering genotype-by-environment interactions.","authors":"João B Silva Neto, Luiz F Brito, Lucio Flavio M Mota, Claudio U Magnabosco, Fernando Baldi","doi":"10.3389/fgene.2025.1539056","DOIUrl":"10.3389/fgene.2025.1539056","url":null,"abstract":"<p><strong>Introduction: </strong>Feed efficiency is a key factor in animal production sustainability, directly affecting production costs, environmental efficiency, and farmer profitability. The inclusion of feeding efficiency traits in cattle breeding programs has occurred later than other species due to longer life cycles and the high costs associated with measuring feed intake. However, genomic selection has facilitated the inclusion of difficult-to-measure traits in selection schemes. Thus, understanding the genetic basis of feed efficiency, particularly under varying environmental conditions, is essential.</p><p><strong>Methods: </strong>This study aimed to identify genomic regions associated with dry matter intake (DMI) and residual feed intake (RFI) in Nellore cattle by performing a genome-wide association study (GWAS) based on single-step genomic reaction norm models that account for genotype-by-environment interactions (G×E). Phenotypic data from 23,170 young bulls and heifers were collected across 301 feed efficiency trials. Genomic windows explaining more than 1% of the total direct additive genetic variance were identified for both the intercept and slope components of the reaction norm for each trait.</p><p><strong>Results: </strong>For RFI, ten and eleven genomic windows explained more than 1% of the genetic variance for the intercept and slope, respectively. For DMI, 12 windows were identified for the intercept and 17 for the slope. Within these regions, Multiple protein-coding genes were annotated (RFI: 66 for intercept and 47 for slope; DMI: 107 for intercept and 109 for slope), which are involved in key biological processes such as insulin, leptin, glucose, protein, and lipid metabolism; energy balance; heat stress response; feeding behavior; digestion; and nutrient absorption.</p><p><strong>Discussion: </strong>The results highlight the functional diversity of genes involved in feed efficiency and their dynamic response to environmental variation. While certain genes remained central across environments, others were specifically important under more challenging conditions, emphasizing the role of G×E in regulating these traits. Furthermore, the magnitude and direction of SNP effects varied across environmental gradients, reinforcing the relevance of G×E. Consequently, genomic estimated breeding values for DMI and RFI also differed between environmental extremes. These findings underscore the adaptability of genetic networks to environmental changes and are essential for refining strategies to improve feed efficiency in Nellore cattle.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1539056"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autosomal dominant myopathy caused by a novel ISCU variant. 常染色体显性肌病由一种新的ISCU变异引起。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1605440
Joanna M Rusecka, Camilla Ceccatelli Berti, Dominika Szczęśniak, Małgorzata Bednarska-Makaruk, Magdalena Mroczek, Magdalena M Kacprzak, Agnieszka Sobczyńska-Tomaszewska, Paola Goffrini
{"title":"Autosomal dominant myopathy caused by a novel <i>ISCU</i> variant.","authors":"Joanna M Rusecka, Camilla Ceccatelli Berti, Dominika Szczęśniak, Małgorzata Bednarska-Makaruk, Magdalena Mroczek, Magdalena M Kacprzak, Agnieszka Sobczyńska-Tomaszewska, Paola Goffrini","doi":"10.3389/fgene.2025.1605440","DOIUrl":"10.3389/fgene.2025.1605440","url":null,"abstract":"<p><p>Hereditary myopathy with lactic acidosis due to Iron-Sulfur Cluster Assembly Enzyme (ISCU) deficiency is a rare disorder of energy metabolism characterized clinically by myopathy with exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes. ISCU protein plays an important role in iron-sulphur clusters (Fe-S) assembly and is therefore essential for the activity of mitochondrial Fe-S proteins such as succinate dehydrogenase and aconitase. Recessive hypomorphic <i>ISCU</i> alleles have been associated with hereditary myopathy with lactic acidosis, also known as Swedish-type myopathy. To date, only one heterozygous dominant variant (c.287G>T, p.Gly96Val) in the ISCU gene has been reported as pathogenic. Functional studies have shown that this variant has a detrimental, dominant effect on activity of Fe-S-dependent enzymes. Whole exome sequencing performed in an adult female patient with progressive muscle weakness led to the identification of a novel heterozygous variant c.399del (p.Val134Ter) in the ISCU gene. This variant is localized in the functional IscU_like domain of the ISCU protein, with bioinformatics prediction of damaging effects on protein function. Moreover, the same variant was also found in a few family members, who present signs of myopathy. This novel variant segregates with the disease and results in a phenotype reminiscent of the recessive disease previously reported. Yeast <i>Saccharomyces cerevisiae</i> is a widely used tool able to assess the impact of the VUS in a quick and efficient way, therefore functional studies were performed on this model system. The results obtained not only confirm the pathogenetic effect of the variant, but also support its dominant inheritance.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1605440"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Development and validation of sex-associated markers using whole-genome re-sequencing in frog Quasipaa spinosa. 利用全基因组重测序技术开发和验证棘足拟蛙性别相关标记。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1596192
Liaoruilin Zhang, Juan Li, Xiang Li, Jinrong He, Jie Zhou, Jinliang Hou, Yulu Liu, Lei Zhang, Yanfei Huang, Hong Li, Xiaolin Liao, Xinhua Liu, Yazhou Hu, Deliang Li, Jianguo Xiang
{"title":"Development and validation of sex-associated markers using whole-genome re-sequencing in frog <i>Quasipaa spinosa</i>.","authors":"Liaoruilin Zhang, Juan Li, Xiang Li, Jinrong He, Jie Zhou, Jinliang Hou, Yulu Liu, Lei Zhang, Yanfei Huang, Hong Li, Xiaolin Liao, Xinhua Liu, Yazhou Hu, Deliang Li, Jianguo Xiang","doi":"10.3389/fgene.2025.1596192","DOIUrl":"10.3389/fgene.2025.1596192","url":null,"abstract":"<p><p>The development of sex markers is crucial for addressing monosexual breeding in aquaculture species and for identifying traits that are sexually inherited, especially for elucidating the mechanisms of sex determination in amphibians. In aquaculture, comprehending sex determination is especially vital because the market value of animal products frequently depends on their sex. <i>Quasipaa spinosa</i> (Anura, Dicroglossidea) is a valuable frog species in the aquaculture industry of China and southeast Asia, yet there exists limited genomic information regarding this organism. Current data indicates that the adoption of all-male breeding techniques in <i>Q. spinosa</i> could substantially benefit the Chinese aquaculture industry, both by augmenting its economic prospects and by ensuring the effectiveness of wildlife reintroduction efforts. The growth rate, adult size, disease resistance, and other traits of male <i>Q. spinosa</i> surpass those of females, making the development of all-male breeding a significant focus in the <i>Q. spinosa</i> aquaculture industry. Therefore, it is imperative to establish a marker specific to males. In this research, we used the male <i>Q. spinosa</i> genome as reference and performed whole-genome resequencing on 30 males and 30 females. Subsequently, we exhibited evident sexual differentiation on chromosome 3 and primers were designed for PCR detection of the identified candidate male INDEL loci. Ultimately, two sex-associated INDELs that could be effectively detected were obtained and validated on the samples collected from the remaining three locations, thereby confirming the robustness of these two INDELs for sex identification in <i>Q. spinosa</i>.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1596192"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 mechanism of RNA methylation writing protein-related prognostic genes in lung adenocarcinoma based on bioinformatics. 基于生物信息学的肺腺癌中RNA甲基化书写蛋白相关预后基因的机制研究。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1541541
Sha Yin, Guangyan Luo, Lei Luo
{"title":"The mechanism of RNA methylation writing protein-related prognostic genes in lung adenocarcinoma based on bioinformatics.","authors":"Sha Yin, Guangyan Luo, Lei Luo","doi":"10.3389/fgene.2025.1541541","DOIUrl":"10.3389/fgene.2025.1541541","url":null,"abstract":"<p><strong>Objective: </strong>RNA methylation modifications play biological roles in tumorigenicity and immune response, mainly mediated by the \"writer\" enzyme. Lung adenocarcinoma (LUAD) development is closely related to RNA methylation. Here, the prognostic values of the \"writer\" enzymes and the tumor immunosurveillance in LUAD aim to provide new theoretical references for the research of LUAD.</p><p><strong>Methods: </strong>Genes associated with RNA methylation writer protein in LUAD were identified using The Cancer Genome Atlas Program (TCGA) data and weighted gene co-expression network analysis (WGCNA). Independent prognostic factors were screened by Cox regression and least absolute shrinkage and selection operator (LASSO) regression analyses. A prognostic risk model and a nomogram were established using these genes. Moreover, Gene Set Enrichment Analysis (GSEA) and CIBERSORTx were used to analyze the immune cell infiltration and enrichment pathways in the low- and high-risk groups, respectively. In addition, genes' potential functions and regulatory mechanisms were explored through gene-gene interaction (GGI) networks and competing endogenous RNA (ceRNA) networks.</p><p><strong>Results: </strong>We selected 202 genes associated with RNA methylation writer proteins, from which we identified the three genes (CLEC3B, GRIA1, and ANOS1). A prognostic risk model was constructed based on genes associated with RNA methylation writer proteins and stage, demonstrating reliable predictive performance. GGI analysis revealed GRIA1 as a crucial gene. Enrichment analysis revealed that the high-risk group had upregulated pathways connected to cell division. Additionally, immune infiltration analysis revealed that the significantly higher levels of NK cells, activated mast cells, activated CD4 memory cells, and M0 and M1 macrophages displayed in the high-risk group, while the significantly lower levels of monocytes, dendritic cells, M2 macrophages, and inactive CD4 memory cells were in the low-risk group. Moreover, Spearman correlation analysis demonstrated that the three prognostic genes and risk scores correlated highly with various immune cells.</p><p><strong>Conclusion: </strong>This study identified three prognostic genes related to RNA methylation writer proteins in LUAD. A reliable prognostic model was constructed. The identified prognostic genes also play significant roles in immune cell infiltration in LUAD. This study provides new theoretical references for subsequent in-depth research on LUAD.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1541541"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12171300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 non-invasive method for screening mitochondrial diabetes. 一种非侵入性的线粒体糖尿病筛查方法。
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-05-30 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1536331
Hangyu Fang, Xiaoe Li, Shuping Wang, Mei Zhang, Victor Wei Zhang, Chao Xu
{"title":"A non-invasive method for screening mitochondrial diabetes.","authors":"Hangyu Fang, Xiaoe Li, Shuping Wang, Mei Zhang, Victor Wei Zhang, Chao Xu","doi":"10.3389/fgene.2025.1536331","DOIUrl":"10.3389/fgene.2025.1536331","url":null,"abstract":"<p><strong>Background: </strong>Mitochondrial diabetes mellitus (MDM) is a special type of diabetes resulting from functional defects in mitochondria. Its incidence rate is low, and it can often be misdiagnosed as either type 1 or type 2 diabetes in clinical settings. Due to limited clinical experience in diagnosing and treating MDM, the rate of missed diagnosis is high. Therefore, employing appropriate detection methods for the rapid screening of suspected MDM patients can facilitate early diagnosis of MDM.</p><p><strong>Methods: </strong>We conducted a multicenter observational study by collecting oral exfoliated cells from patients and detecting the m.3243A>G mutation using Polymerase Chain Reaction (PCR). We estimated the positivity rate of MDM and clinically evaluated the detection method through clinical trials. Additionally, we summarized the clinical phenotypes of patients who tested positive and compared the clinical manifestations between MDM and non-MDM patients using statistical analysis, providing a diagnostic foundation for clinicians.</p><p><strong>Results: </strong>We collected data from a total of 478 patients and identified 16 cases of m.3243A>G mutation-positive patients by collecting oral exfoliated cell samples for PCR testing, yielding a positivity rate of 3.35% and an asymptomatic carrier rate of 0.84%. These results are slightly higher than those reported in previous research. The gene mutation detection method demonstrated high credibility and was non-invasive, with a clinical sensitivity of 87.2% and clinical specificity of 96.9%. Additionally, patient satisfaction was high in this study. Statistical analysis revealed a significant difference in clinical manifestations between MDM and non-MDM patients. MDM patients were more likely to experience neurological hearing loss and multiple systemic manifestations, and their condition was consistent with maternal inheritance, in line with previous research findings.</p><p><strong>Conclusion: </strong>The detection of the m.3243A>G mutation through the collection of oral exfoliated cells offers several advantages over other methods, including simplicity, non-invasiveness, and high specificity and sensitivity. However, it is currently underutilized. Therefore, further experiments are needed to study and validate this approach in order to optimize MDM screening methods and improve diagnostic rates for MDM.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1536331"},"PeriodicalIF":2.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12162994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of salinity stress on morphological structure, physiology, and mRNA expression in different wheat (Triticum aestivum L.) cultivars. 盐度胁迫对不同小麦品种形态结构、生理及mRNA表达的影响
IF 2.8 3区 生物学
Frontiers in Genetics Pub Date : 2025-05-30 eCollection Date: 2025-01-01 DOI: 10.3389/fgene.2025.1535610
Xiaohui Sun, Yuliu Tan, Yumei Zhang, Weiwei Guo, Ximei Li, Nataliia Golub, Lili Zhang, Huifang Wang
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