Genes最新文献

{"title":"Circulating microRNAs as Potential Biomarkers of Overweight and Obesity in Adults: A Narrative Review.","authors":"Francisca Villagrán-Silva, Pía Loren, Cristian Sandoval, Fernando Lanas, Luis A Salazar","doi":"10.3390/genes16030349","DOIUrl":"10.3390/genes16030349","url":null,"abstract":"<p><p>In an obesogenic environment, such as the one we have been experiencing in recent decades, epigenetics provides answers to the relationship between hereditary and environmentally acquired patterns that have significantly contributed to the global rise in obesity prevalence. MicroRNA (miRNA) constitutes a diminutive non-coding small RNA molecule, 20 to 24 nucleotides in length, that functions as a regulator of gene regulation at the post-translational level. Circulating miRNAs (c-miRNAs) have been detected in multiple body fluids, including blood, plasma, serum, saliva, milk from breastfeeding mothers, and urine. These molecules hold significant therapeutic value and serve as extracellular biomarkers in metabolic diseases. They aid in the diagnosis and tracking of therapy responses, as well as dietary and physical habit modifications. Researchers have studied c-miRNAs as potential biomarkers for diagnosing and characterizing systemic diseases in people of all ages and backgrounds since then. These conditions encompass dyslipidemia, type 2 diabetes mellitus (T2DM), cardiovascular risk, metabolic syndrome, cardiovascular diseases, and obesity. This review therefore analyzes the usefulness of c-miRNAs as therapeutic markers over the past decades. It also provides an update on c-miRNAs associated with general obesity and overweight, as well as with the most prevalent pathologies in the adult population. It also examines the effect of different nutritional approaches and physical activity regarding the activity of miRNAs in circulation in adults with overweight or general obesity. All of this is done with the aim of evaluating their potential use as biomarkers in various research contexts related to overweight and obesity in adults.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942292/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729667","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}

{"title":"Dissecting Metabolic Functions and Sugar Transporters Using Genome and Transportome of Probiotic <i>Limosilactobacillus fermentum</i> KUB-D18.","authors":"Yuke He, Kevin Mok, Pramote Chumnanpuen, Massalin Nakphaichit, Wanwipa Vongsangnak","doi":"10.3390/genes16030348","DOIUrl":"10.3390/genes16030348","url":null,"abstract":"<p><p><b>Background/Objectives:</b><i>Limosilactobacillus fermentum</i> KUB-D18, a heterofermentative lactic acid bacterium with promising probiotic properties, is known for promoting gut health and nutrient absorption. Originally isolated from chicken intestines, this strain demonstrates versatile metabolic capabilities in diverse gastrointestinal environments. However, the metabolic functions and sugar transport-related genes remain largely unexplored. This study thus aimed to dissect metabolic functions and sugar transports of <i>L. fermentum</i> KUB-D18. <b>Methods:</b> Next-generation and third-generation sequencing techniques using integrative genomic platform towards transportome analysis were performed. <b>Results:</b> The complete genome, sized at 2.12 Mbps with a GC content of 51.36%, revealed 2079 protein-encoding genes, of which 1876 protein functions were annotated and identified in top categories involved in amino acids, nucleotide, energy, and carbohydrate transports and metabolisms. Comparative genes analysis identified 50 core and 12 strain-specific genes linked to probiotic properties, e.g., acid resistances and bile tolerances, antioxidant functions, or anti-inflammatory properties. Further, sugar transportome analysis uncovered 57 transporter genes, demonstrating diverse carbon utilization and phosphotransferase (PTS) systems, corroborated by API 50 CHL test results for carbohydrate metabolism profile. <b>Conclusions:</b> These findings enhance the comprehensive metabolic understanding of <i>L. fermentum</i> KUB-D18, supporting its industrial potential and applications in engineered probiotics.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729635","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}

{"title":"Analysis of WRKY Gene Family in <i>Acer fabri</i> and Their Expression Patterns Under Cold Stress.","authors":"Gongwei Chen, Yixiao Zhou, Dandan Zhang, Fengyuan Chen, Xuyang Qin, Hongyu Cai, Heng Gu, Yuanzheng Yue, Lianggui Wang, Guohua Liu","doi":"10.3390/genes16030344","DOIUrl":"10.3390/genes16030344","url":null,"abstract":"<p><strong>Background/objectives: </strong>The WRKY gene family plays a critical role in plant stress responses; however, its function in <i>Acer fabri</i> (<i>A. fabri</i>) under cold stress conditions remains poorly understood. This study aims to identify WRKY genes in <i>A. fabri</i>, analyze their structural characteristics, and investigate their expression patterns under cold stress, thereby establishing a foundation for further exploration of their roles in cold stress responses.</p><p><strong>Methods: </strong>Using transcriptional data from <i>A. fabri</i> subjected to cold stress, we identified 46 WRKY family genes. We employed bioinformatics tools to conduct a comprehensive analysis of the physical and chemical properties of these genes, predict their subcellular localization, and construct a phylogenetic tree. A heatmap was generated to visualize the expression levels of WRKY genes across different treatment conditions. To validate our findings, qRT-PCR was performed on 10 highly expressed WRKY genes to analyze their temporal expression patterns during cold stress exposure.</p><p><strong>Results: </strong>The analysis revealed that WRKY genes in <i>A. fabri</i> are predominantly localized to the nucleus, with protein lengths ranging from 55 to 1027 amino acids. Notably, all WRKY genes possessed the conserved WRKYGQK domain. Under cold stress conditions, the WRKY gene expression exhibited a general trend of increasing followed by decreasing, with peak expression observed at 24 h post-treatment. qRT-PCR analysis corroborated this pattern for the selected genes.</p><p><strong>Conclusions: </strong>This study represents the first comprehensive structural and expression analysis of the <i>A. fabri</i> WRKY gene family under cold stress conditions. Our findings provide valuable insights into their potential roles in plant cold stress responses, and lay the groundwork for future investigations into the molecular mechanisms underlying WRKY-mediated cold stress tolerance in <i>A. fabri</i>.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942518/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729644","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}

{"title":"Detection of mRNA Transcript Variants.","authors":"Kevin Vo, Sharmin Shila, Yashica Sharma, Grace J Pei, Cinthia Y Rosales, Vinesh Dahiya, Patrick E Fields, M A Karim Rumi","doi":"10.3390/genes16030343","DOIUrl":"10.3390/genes16030343","url":null,"abstract":"<p><p>Most eukaryotic genes express more than one mature mRNA, defined as transcript variants. This complex phenomenon arises from various mechanisms, such as using alternative transcription start sites and alternative post-transcriptional processing events. The resulting transcript variants can lead to synthesizing proteins that possess distinct functional domains or may even generate noncoding RNAs, each with unique roles in cellular processes. The generation of these transcript variants is not merely a random occurrence; it is cell-type specific and varies with developmental stages, aging processes, or pathogenesis of diseases. This highlights the biological significance of transcript variants in regulating gene expression and their potential impact on cellular functionality. Despite the biological importance, investigating transcript variants has been hampered by challenges associated with detecting their expression. This review article addresses the advancements in molecular techniques in detecting transcript variants. Traditional methods such as RT-PCR and RT-qPCR can easily detect known transcript variants using primers that target unique exons associated with the variants. Other techniques like RACE-PCR and hybridization-based methods, including Northern blotting, RNase protection assays, and microarrays, have also been utilized to detect transcript variants. Nevertheless, RNA sequencing (RNA-Seq) has emerged as a powerful technique for identifying transcript variants, especially those with previously unknown sequences. The effectiveness of RNA sequencing in transcript variant detection depends on the specific sequencing approach and the precision of data analysis. By understanding the strengths and weaknesses of each laboratory technique, researchers can develop more effective strategies for detecting mRNA transcript variants. This ability will be crucial for our comprehensive understanding of gene regulation and the implications of transcript diversity in various biological contexts.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143728741","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}

{"title":"Genetic Diversity and Ethnic Tapestry of Kazakhstan as Inferred from HLA Polymorphism and Population Dynamics: A Comprehensive Review.","authors":"Aida Turganbekova, Saniya Abdrakhmanova, Zhaksylyk Masalimov, Wassim Y Almawi","doi":"10.3390/genes16030342","DOIUrl":"10.3390/genes16030342","url":null,"abstract":"<p><p><b>Background:</b> The human leukocyte antigen (HLA) system represents the most polymorphic segment within human DNA sequences and constitutes a core component of immune defense responses and in understanding population genetics. This research investigates the distribution of HLA class I and II polymorphisms across different ethnic groups in Kazakhstan, offering valuable insights into the genetic diversity and demographic evolution within this region. <b>Methods:</b> We performed an in-depth examination of HLA class I and II polymorphisms across diverse ethnic communities living in Kazakhstan, including Kazakhs, Russians, Uzbeks, Ukrainians, Germans, Tatars, and Koreans. Utilizing data from high-resolution HLA typing studies allowed us to assess allele frequencies alongside haplotype distributions while analyzing genetic interrelations between these populations. Additionally, we performed comparative assessments with global HLA databases to determine the genetic affiliations between these groups and their relationships with neighboring and more distant populations. <b>Results:</b> Our study revealed over 200 HLA alleles within the analyzed populations, and significant variations were observed in their allele and haplotype frequencies. Notably, the Kazakh group exhibited strong genetic ties to Asian and Siberian demographics; conversely, other ethnicities showed associations reflective of their historical roots. Notable alleles included HLA-<i>A*02:01</i>, <i>B*07:02</i>, <i>C*07:02</i>, <i>DRB1*07:01</i>, and <i>DQB1*03:01</i>, commonly observed across various groups. Linkage disequilibrium analysis revealed the presence of population-specific haplotypes, highlighting distinct genetic structures within these communities. <b>Conclusions</b>: The findings highlight the significant genetic diversity in Kazakhstan, influenced by its geographical location at the crossroads of Europe and Asia. These results are pertinent to immunogenetics, transplantation medicine, and personalized healthcare within Kazakhstan and adjacent regions. Future research should expand the sample size and explore disease associations to enhance our comprehension of HLA genetics across Central Asia.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11941833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729682","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}

{"title":"MYOSLID: A Critical Modulator of Cancer Hallmarks.","authors":"Kanupriya Medhi, Sagarika Mukherjee, Aastha Dagar, Ashutosh Kumar Tiwari, Sia Daffara, Sanjana Bana, Vivek Uttam, Md Rizwan Ansari, Vikas Yadav, Hardeep Singh Tuli, Aklank Jain","doi":"10.3390/genes16030341","DOIUrl":"10.3390/genes16030341","url":null,"abstract":"<p><p>Despite being the leading cause of death worldwide, cancer still lacks precise biomarkers for effective targeting, limiting efforts to reduce mortality rates. This review explores the role and clinical significance of a newly identified long non-coding RNA, <i>MYOSLID</i>, in cancer progression. <i>MYOSLID</i> has emerged as a critical modulator in cancer progression by influencing key hallmarks such as proliferation, immune evasion, metastasis, and metabolic reprogramming. It promotes tumor cell growth by stabilizing hypoxia-inducible factor 1 and acting as a competing endogenous RNA (ceRNA) to sequester tumor-suppressive microRNAs like miR-29c-3p, thereby enhancing oncogene expression. It facilitates immune evasion by upregulating PD-L1, suppressing T cell activation, and modulating necroptosis pathways involving RIPK1 and RIPK3. Additionally, <i>MYOSLID</i> drives metastasis by regulating epithelial-mesenchymal transition markers such as LAMB3 and Slug while promoting RAB13-mediated cytoskeletal remodeling and enhancing cancer cell invasion. We have obtained the expression of <i>MYOSLID</i> from TCGA and the ENCORI database. The expression of colorectal adenocarcinoma (COAD) and head and neck squamous cell carcinoma (HNSCC) is associated with poor prognosis and lower survival rate. Given its significant potential as a diagnostic biomarker and therapeutic target, further research is required to elucidate its precise molecular mechanisms and therapeutic applications in cancer treatment.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729701","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}

{"title":"Common Regulatory Mechanisms Mediated by Cuproptosis Genes in Inflammatory Bowel Disease and Major Depressive Disorder.","authors":"Jiyuan Shi, Qianyi Wu, Mengmeng Sang, Liming Mao","doi":"10.3390/genes16030339","DOIUrl":"10.3390/genes16030339","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of major depressive disorder (MDD) among patients with inflammatory bowel disease (IBD) is significantly higher compared to the general population, suggesting a potential link between their pathogeneses. Cuproptosis, defined as cell death caused by intracellular copper accumulation, has not been thoroughly investigated in the context of IBD and MDD. This study aims to uncover the molecular mechanisms of cuproptosis-related genes (CRGs) in both conditions and to explore novel therapeutic strategies by the modulation of CRGs.</p><p><strong>Methods: </strong>In this study, we identified differentially expressed CRGs between normal and disease samples. We calculated the correlation among CRGs and between CRGs and immune cell infiltrations across various tissues. Four machine learning algorithms were employed to identify key CRGs associated with IBD and MDD. Additionally, drug sensitivity, molecular docking, and molecular dynamics simulations were conducted to predict therapeutic drugs for IBD and MDD.</p><p><strong>Results: </strong>We identified <i>DLD</i>, <i>DLAT</i>, <i>DLST</i>, <i>PDHB</i>, and <i>DBT</i> as common DE-CRGs, and <i>DLD</i>, <i>LIAS</i>, <i>SLC31A1</i>, <i>SCO2</i>, and <i>CDKN2A</i> as key CRGs associated with both IBD and MDD. Consequently, <i>DLD</i> was recognized as a shared biomarker in both diseases. A total of 37 potential therapeutic drugs were identified for IBD and MDD. Based on the molecular docking and molecular dynamics simulation analyses, barasertib and NTP-TAE684, which target DLAT, were predicted to be the most effective compounds.</p><p><strong>Conclusions: </strong>These findings have substantially enhanced our understanding of the similarities and differences in the regulatory mechanisms of CRGs within brain-gut axis diseases. Key biomarkers have been identified, and potential therapeutic drugs have been predicted to effectively target IBD and MDD.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729618","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}

{"title":"Expression Profile of Twelve Transcripts as a Supporting Tool for the Molecular Characterization of Canine Cutaneous Mast Cell Tumors at Diagnosis: Association with Histological Grading and Clinical Staging.","authors":"Mery Giantin, Ludovica Montanucci, Rosa Maria Lopparelli, Roberta Tolosi, Alfredo Dentini, Valeria Grieco, Damiano Stefanello, Silvia Sabattini, Laura Marconato, Marianna Pauletto, Mauro Dacasto","doi":"10.3390/genes16030340","DOIUrl":"10.3390/genes16030340","url":null,"abstract":"<p><strong>Background/objectives: </strong>Mast cell tumors (MCTs) are the second most common malignant neoplasms in dogs. Histopathological grading and clinical staging are the main tools for estimating biological behavior and disease extent; thus, both are essential for therapeutic decision-making and prognostication. However, the biological behavior of MCTs in dogs is variable, and it sometimes deviates from expectations. In a previous study, we identified 12 transcripts whose expression profile allowed a clear distinction between Kiupel low-grade and high-grade cutaneous MCTs (cMCTs) and was associated with prognosis. Building on these findings, this study evaluated the predictive potential of these transcripts' expression profiles in classifying cMCTs into low-grade and high-grade.</p><p><strong>Methods: </strong>A logistic regression classifier based on the expression profiles of the identified transcripts and able to classify cMCTs as low- or high-grade was developed and subsequently tested on a novel dataset of 50 cMCTs whose expression profiles have been determined in this study through qPCR.</p><p><strong>Results: </strong>The developed logistic regression classifier reaches an accuracy of 67% and an area under the receiver operating characteristic curve (AUC) of 0.76. Interestingly, the molecular classification clearly identifies stage-IV disease (90% true positive rate).</p><p><strong>Conclusions: </strong>qPCR analysis of these biomarkers combined with the machine learning-based classifier might serve as a tool to support cMCT clinical management at diagnosis.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729655","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}

{"title":"Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series.","authors":"Haruo Shimazaki","doi":"10.3390/genes16030335","DOIUrl":"10.3390/genes16030335","url":null,"abstract":"<p><strong>Background: </strong>Episodic ataxia type 2 (EA2) is a rare disorder characterized by paroxysmal gait instability, dysarthria, and dizziness. It is caused by <i>CACNA1A</i> mutations. Spinocerebellar ataxia type 6 (SCA6) rarely causes episodic ataxia-like symptoms. Acetazolamide has limited effectiveness for treating episodic ataxia.</p><p><strong>Methods: </strong>We investigated the effect of drug therapy in two patients with EA2 and one patient with SCA6 who presented with episodic ataxia. All three cases were CACNA1A-associated diseases.</p><p><strong>Results: </strong>In these three cases, acetazolamide administration was partially and transiently effective for episodic ataxia attacks. After levetiracetam addition, the number of ataxic attacks was significantly reduced, although the durations of attacks were not changed. The effect of levetiracetam was stable and continued for seven years. Levetiracetam and acetazolamide reduced chronic cerebellar ataxia in an SCA6 patient.</p><p><strong>Conclusions: </strong>In this small number of cases, levetiracetam was considered effective in two patients with EA2 and mildly effective in one patient with SCA6.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729637","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}

{"title":"Genomics May Be the Key to Understanding Endurance Training Pillars.","authors":"Ricardo Muller Bottura, Daniel Blasioli Dentillo","doi":"10.3390/genes16030338","DOIUrl":"10.3390/genes16030338","url":null,"abstract":"<p><p>Endurance performance is primarily determined by three key physiological pillars: maximal oxygen uptake (VO₂max), anaerobic threshold, and economy of movement. Recent research has suggested physiological resilience as a potential fourth dimension, referring to an athlete's ability to sustain performance despite accumulating fatigue. While the role of genetic factors in endurance has been widely studied, their influence on these pillars, particularly on fatigue resistance and long-term adaptation, remains an area of growing interest. This narrative review explores the genomic basis of endurance performance, analyzing genetic contributions to oxygen transport, metabolic efficiency, muscle composition, and recovery. Additionally, it discusses how genetic variability may modulate an athlete's response to training, including aspects of physiological adaptation, injury susceptibility, sleep, and nutrition. The review highlights physiological resilience in the context of endurance sports, discussing its connection to neuromuscular and metabolic regulation. By integrating genetic insights with established physiological principles, this review provides a comprehensive perspective on endurance adaptation. Future research directions are outlined to enhance our understanding of the genetic underpinnings of endurance, with implications for personalized training and performance optimization.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729697","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}