Frontiers in bioscience (Scholar edition)最新文献

{"title":"Disentanglement of DNA in the Eukaryotic Nucleus.","authors":"Raul A Saavedra","doi":"10.31083/FBS46278","DOIUrl":"https://doi.org/10.31083/FBS46278","url":null,"abstract":"<p><p>In the eukaryotic nucleus, the establishment and maintenance of DNA topological states depend on the complex interplay of nucleosomes, topoisomerase enzymes, DNA transactions, and environmental temperature. This article describes and integrates the roles of these participants in this intricate yet fascinating biological phenomenon.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 3","pages":"46278"},"PeriodicalIF":0.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Next Generation Sequencing in the Diagnosis of Multiple Myeloma.","authors":"Ikram El Fazazi, Hajar Ihlal, Amal Ouskri, Samira Nmer, Angela Washenko, Hinde El Mouhi, Meriame Abbassi, Mohamed Ahakoud, Laila Bouguenouch, Rhizlane Berrady, Karim Ouldim, Mohammed El-Azami-El-Idrissi","doi":"10.31083/FBS44690","DOIUrl":"https://doi.org/10.31083/FBS44690","url":null,"abstract":"<p><p>Multiple myeloma (MM) is a biologically and clinically heterogeneous plasma cell malignancy characterized by clonal expansion in the bone marrow and a highly variable clinical course. Despite major therapeutic advances, MM remains incurable, largely due to the associated genomic complexity, clonal evolution, and the emergence of treatment resistance. In this context, next-generation sequencing (NGS) has emerged as a transformative tool for improving disease characterization, risk stratification, and clinical management. This review summarizes current evidence on the application of NGS technologies, including whole-exome sequencing, whole-genome sequencing, and targeted gene panels-in the diagnosis, prognostic assessment, and monitoring of MM. Genomic profiling has consistently revealed recurrent alterations in key driver genes, copy number abnormalities, and structural variants that underlie disease heterogeneity and influence clinical outcomes. In addition to baseline characterization, NGS enables high-resolution analysis of clonal architecture and evolution, offering critical insights into mechanisms of relapse and therapeutic resistance. Importantly, NGS-based assessment of minimal residual disease (MRD) has demonstrated superior sensitivity compared with conventional techniques, providing a powerful prognostic marker and a promising tool for treatment monitoring and response-adapted strategies. Indeed, by integrating genomic and MRD data, NGS supports a more precise and dynamic approach to patient management. Overall, the growing body of evidence highlights NGS as a central component of precision medicine in multiple myeloma. Continued efforts toward standardization, validation of emerging biomarkers, and clinical implementation of sequencing-guided strategies are expected to enhance personalized treatment further and improve patient outcomes.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 3","pages":"44690"},"PeriodicalIF":0.0,"publicationDate":"2026-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reverse Cascade Genetic Screening for Revealing New Cases of Familial Hypercholesterolemia in Russia: Pilot Project.","authors":"Valentina V Miroshnikova, Artem D Izyumchenko, Nataliia N Smirnova, Natalia B Kuprienko, Soreiia A Urazgildeeva, Maria N Grunina, Svetlana V Linkova, Kseniia V Dracheva, Kseniia O Tanayants, Alina A Petrik, Oleg S Glotov, Kristina V Legostaeva, Alexandr N Kulikov, Irina V Ilyinets, Tat'yana M Ivashikina, Lidiya A Klochko, Sofya N Pchelina","doi":"10.31083/FBS47474","DOIUrl":"https://doi.org/10.31083/FBS47474","url":null,"abstract":"<p><strong>Background: </strong>Reverse cascade genetic screening, following initial lipid testing, is an effective strategy for the early diagnosis of familial hypercholesterolemia (FH) and related hereditary dyslipidemias. In this study, we present the results of a pilot project in Russia.</p><p><strong>Methods: </strong>This was a hybrid retrospective-prospective cross-sectional study. Analysis of 1897 lipid screenings of children referred to the main pediatric centers in St. Petersburg, Russia, demonstrated that 60 (3.2%) met the Simon Broome criteria for FH, defined as total cholesterol (TC) ≥6.5 mmol/L or low-density lipoprotein cholesterol (LDL-C) ≥4 mmol/L. All families were invited to undergo genetic testing, regardless of their history, with 35 (58%) families participating in the second stage of the study. Targeted sequencing was performed for children, and Sanger sequencing was performed for variant validation in children and their family members.</p><p><strong>Results: </strong>Sixteen children were shown to have causal variants in dyslipidemia-associated genes, including fourteen (40% of 35 tested children) with hereditary dyslipidemias: twelve FH cases (linked to <i>LDLR</i> and <i>APOB</i> genetic variants), one dysbetalipoproteinemia case (<i>APOE</i>), and one sitosterolemia case (<i>ABCG8</i>). Two children were heterozygous for sitosterolemia variants (one case with <i>ABCG5</i>, one case with <i>ABCG8</i>). Family history of FH or atherosclerotic cardiovascular disease (ASCVD) was reported in only 50% of cases, regardless of whether a causal variant was present. TC and LDL-C were higher in the causal variant-positive subgroup. Receiver operating characteristic curve analysis revealed that LDL-C >4.8 mmol/L acted as a diagnostic indicator of disease causing variant with 84% accuracy, 93% sensitivity, and 73% specificity.</p><p><strong>Conclusions: </strong>Reverse cascade genetic screening following selective lipid testing in children is an effective strategy to reveal new FH and other hereditary dyslipidemia cases, helping to mitigate future ASCVD risks and early mortality.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 3","pages":"47474"},"PeriodicalIF":0.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>BRCA-</i>Mutated Prostatic Adenocarcinoma: A Distinct Clinicopathological Subset With Frequent Cribriform Morphology Associated With Domain-Specific Alterations in Putative Protein Properties.","authors":"Selin Kurt, Kritika Krishnamurthy","doi":"10.31083/FBS46226","DOIUrl":"https://doi.org/10.31083/FBS46226","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Several studies have demonstrated a worse prognosis in BRCA1 (BRCA1 DNA repair associated)- and BRCA2 (BRCA2 DNA repair associated)-mutated prostatic adenocarcinomas, including shorter disease-free survival, an increased risk of disease progression, and inferior overall survival. This study presents a comparative clinicopathologic analysis of grade-matched BRCA1/2-mutant and wild-type prostatic adenocarcinomas.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Materials and methods: &lt;/strong&gt;Cases of prostatic adenocarcinoma that underwent broad-panel next-generation sequencing (NGS) and were found to harbor &lt;i&gt;BRCA1&lt;/i&gt; and/or &lt;i&gt;BRCA2&lt;/i&gt; mutations were retrieved from the pathology archives. The control group consisted of age, Gleason grade group, and stage-matched prostatic adenocarcinomas negative for &lt;i&gt;BRCA1&lt;/i&gt; and/or &lt;i&gt;BRCA2&lt;/i&gt; mutations. The hematoxylin and eosin (H&E) slides from both cohorts were retrieved and reviewed. The presence and location of metastasis were also recorded. The NGS data were reviewed, and the reported &lt;i&gt;BRCA1&lt;/i&gt; and &lt;i&gt;BRCA2&lt;/i&gt; variants were analyzed. Statistical analysis was performed using IBM SPSS 26 software for Windows, version 26.0 (IBM Corp., Armonk, NY, USA).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Histological review of the two groups showed a similar distribution of intraductal carcinoma, neuroendocrine differentiation, perineural invasion, necrosis, extraprostatic extension, and metastatic disease. Cribriform pattern was present in all BRCA-mutated cases in the study cohort, but was completely absent in the control group (&lt;i&gt;p&lt;/i&gt; = 0.022). The &lt;i&gt;BRCA1&lt;/i&gt; variants were identified in three cases (30%) and included one splice-site variant, one frameshift variant, one nonsense variant, and one missense variant. The nonsense mutation was predicted to disrupt molecular recognition features, amidation, calcium binding, catalytic sites, and carboxylation (&lt;i&gt;p&lt;/i&gt; &lt; 0.01). In contrast, &lt;i&gt;BRCA2&lt;/i&gt; variants were identified in nine cases, including three cases with &lt;i&gt;BRCA2&lt;/i&gt; loss, one case with a large genomic rearrangement involving introns 16 and 18, three cases with missense variants and two cases with frameshift variants. The two frameshift variants showed similar predicted disruption of protein function with significant impact on protein-protein interaction hotspots, catalytic sites, iron binding, and sulfation (&lt;i&gt;p&lt;/i&gt; = 0.01).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;The current study found that prostatic adenocarcinoma with cribriform morphology may be enriched for BRCA alterations and could be used to prioritize BRCA mutation testing, pending validation in larger cohorts. Mutation Prediction for Loss-of-Function (MutPred-LOF) algorithmic prediction of molecular mechanisms of pathogenicity identified variants that may impact catalytic sites, ion binding, and post-translational chemical modifications in this subgroup of BRCA-mutated prostatic adenocarcinomas; however, further functional studies are required to ","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 3","pages":"46226"},"PeriodicalIF":0.0,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>TPMT</i> and <i>NUDT15</i> Pharmacogenomic Profiles in Peruvian Patients With Pediatric Hematologic Malignancies.","authors":"Julio A Poterico, Francisco Sánchez-Pinto, Gerardo Noriega-Manrique, Kelly Franco-Bustamante, Gioconda Manassero-Morales, Julissa Fuentes-Vera, Luis Jaramillo-Valverde, Alicia Mafaldo-Rengifo, Jorge Contreras-Saavedra","doi":"10.31083/FBS50635","DOIUrl":"https://doi.org/10.31083/FBS50635","url":null,"abstract":"<p><strong>Background: </strong>Thiopurines remain a cornerstone of treatment for pediatric acute lymphoblastic leukemia (ALL); however, interindividual variability in drug metabolism, largely driven by polymorphisms in the thiopurine S-methyltransferase (<i>TPMT</i>) and nucleoside diphosphate-linked moiety X-type motif 15 (<i>NUDT15</i>) genes, can predispose patients to severe, dose-dependent toxicities. Latin American populations have been underrepresented in several global pharmacogenomic (PGx) datasets, limiting the applicability of current dosing recommendations.</p><p><strong>Methods: </strong>Thus, this study aimed to analyze <i>TPMT</i> and <i>NUDT15</i> variants in 302 pediatric patients diagnosed with hematological malignancies at the Instituto Nacional de Salud del Niño-San Borja (INSN-SB). Targeted sequencing of the coding regions was performed using custom AmpliSeq™ panels and Illumina platforms, followed by variant annotation and star allele classification based on the Clinical Pharmacogenetics Implementation Consortium (CPIC) and PharmGKB guidelines.</p><p><strong>Results: </strong>Among the <i>TPMT</i> alleles, <i>*3A</i> (8.97%) was the most prevalent actionable variant, followed by <i>*2</i> (0.32%) and <i>*3C</i> (0.32%). For <i>NUDT15</i>, the most frequent reduced-function allele was <i>*2</i> (9.29%), with additional findings of <i>*4</i> (0.64%), <i>*6</i> (0.32%), <i>*3</i> (0.16%), and <i>*15</i> (0.16%). A substantial proportion of the cohort was classified as intermediate or poor metabolizer categories, indicating an increased risk of thiopurine-related toxicity. The observed allele distribution suggests potential geographic variation, although these patterns should be interpreted as exploratory given the limited regional sample size.</p><p><strong>Conclusions: </strong>This study provides one of the first comprehensive characterizations of clinically relevant <i>TPMT</i> and <i>NUDT15</i> variants in a Peruvian pediatric population. The findings highlight a substantial burden of actionable pharmacogenetic variants and support the implementation of preemptive genotyping to guide thiopurine dosing. These results help addressing the underrepresentation of Latin American populations in PGx research and provide a foundation for advancing precision medicine in the region.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 3","pages":"50635"},"PeriodicalIF":0.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biochemical Characterization of Ribonuclease Activities From the Sea Cucumber <i>Eupentacta fraudatrix</i>.","authors":"Svetlana E Soboleva, Valeria A Ivaschenko, Irina A Kostrikina, Georgy A Nevinsky","doi":"10.31083/FBS48977","DOIUrl":"https://doi.org/10.31083/FBS48977","url":null,"abstract":"<p><strong>Background: </strong>The sea cucumber <i>Eupentacta fraudatrix</i> is a highly interesting model organism for research due to the remarkable ability of the organism to regenerate lost organs following evisceration. In animals after evisceration, increased expression levels of genes such as <i>Sox</i> (SRY-related HMG-box, transcription factors), <i>MMP</i> (matrix metalloproteinases), <i>TIMP</i> (tissue inhibitors of metalloproteinases), and <i>PIWI</i> (ribonuclease-active proteins) have been observed. Since ribonucleases release nucleotides for the synthesis of new molecules and regulate cellular processes by acting on various RNA species, these enzymes are hypothesized to play a significant role in regeneration.</p><p><strong>Methods: </strong>Holothurian homogenate was fractionated chromatographically into several protein fractions. Ribonuclease activity was analyzed using a specific microRNA (miRNA) as a substrate, as well as by an in-gel activity assay.</p><p><strong>Results: </strong>This study examined the ribonuclease activity of <i>E.</i> <i>fraudatrix</i> proteins precipitated with ammonium sulfate from whole-organism homogenates, focusing on pH dependence and substrate specificity. The optimal pH for hydrolyzing a specific miRNA related to the sea cucumber <i>Apostichopus japonicus</i> and a non-specific homo-oligonucleotide, (pA)₂₃, was 5.0 and 6.0, respectively. Inhibition of ribonuclease activity in the presence of EDTA (ethylenediaminetetraacetic acid), Mg²⁺, and Ca²⁺ indicates dependence on metal ions. Hydrolysis of the specific substrate was about 25% higher than that of the non-specific substrate and produced five cleavage sites. Using in-gel activity analysis, five protein bands with ribonuclease activity were detected in <i>E. fraudatrix</i> homogenate, with apparent molecular masses ranging from 15 to 77 kDa.</p><p><strong>Conclusions: </strong>This work represents the first report describing the biochemical properties of a ribonuclease from this holothurian species. Five protein forms with ribonuclease activity, differing in electrophoretic mobility, were identified. The biochemical characteristics of these enzymes resemble those of ribonucleases from other echinoderms. Ribonucleases from echinoderms are promising tools for molecular biology applications, including DNA purification, RNA analysis and mapping, as well as for biomedicine, particularly in the development of antiviral agents.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 3","pages":"48977"},"PeriodicalIF":0.0,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149083005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Looking at Optic Nerve Sheath Meningiomas Through Genetics-From Clinic to Bench and Back Again.","authors":"Marco Zeppieri, Fabiana D'Esposito, Caterina Gagliano, Marco Battista, Piero Barboni, Simonetta Gaia Nicolosi, Matteo Capobianco","doi":"10.31083/FBS46877","DOIUrl":"10.31083/FBS46877","url":null,"abstract":"<p><p>Optic nerve sheath meningiomas (ONSMs) occupy a unique intersection between neuro-oncology and genetics. Although most cases arise in middle-aged women as solitary, slow-growing tumors, pediatric onset, bilateral disease, or rapid progression frequently signal an underlying germline alteration, most often in neurofibromatosis type II (NF2). This narrative review synthesizes the literature through May 2025, examining clinical behavior, imaging, pathology, hereditary syndromes, and the molecular drivers of ONSMs, with particular emphasis on NF2, SMARCB1, TRAF7, and recent copy-number and methylation studies. Classic sporadic ONSMs seldom exhibit loss of chromosome 22q. However, somatic <i>NF2</i> alterations and occasional changes in chromatin-remodeling genes still converge on Hippo pathway output (Yes-associated protein/transcriptional coactivator with PDZ-binding motif (YAP/TAZ)-driven transcriptional activity), phosphoinositide 3-kinase-protein kinase B (PI3K-AKT), and MAPK signaling. Emerging multi-omics data indicate that optic nerve tumors represent a molecularly distinct subset within the meningioma spectrum. This finding may explain the associated characteristically indolent growth and favorable response to conformal radiotherapy. Genotyping refines risk stratification: early <i>NF2</i> testing is warranted in children and in bilateral or atypical presentations, enabling timely surveillance and genetic counseling. While fractionated stereotactic radiotherapy remains the mainstay of therapy, pathway-targeted and gene-replacement strategies developed for <i>NF2</i>-associated tumors may soon expand therapeutic options. Given the site-specific diagnostic and functional constraints of peri-optic tumors, larger collaborative cohorts and genotype-guided trials are essential to translate these biological insights into precision care for patients with ONSMs.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 2","pages":"46877"},"PeriodicalIF":0.0,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148400145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Jaramillo-Valverde <i>et al</i>. Exploratory Study on Genetic Variants Related to Hydatidosis Susceptibility and Albendazole Pharmacogenetics in the Cusco Region in Peru. 2025; 17(3): 40566.","authors":"Luis Jaramillo-Valverde, Marlon Yuri Garcia-Paitan, Dolly Landeo, Saul J Santivañez, Ramon Cacacabelos","doi":"10.31083/FBS54967","DOIUrl":"10.31083/FBS54967","url":null,"abstract":"","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 2","pages":"54967"},"PeriodicalIF":0.0,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148400167","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circulating MicroRNAs and Clinical Parameters in Hypertrophic Cardiomyopathy: A Systematic Review and Correlation Meta-Analysis.","authors":"Antonio da Silva Menezes Junior, Henrique Lima de Oliveira, Khissya Beatryz Alves de Lima","doi":"10.31083/FBS47633","DOIUrl":"10.31083/FBS47633","url":null,"abstract":"<p><strong>Background: </strong>Hypertrophic cardiomyopathy (HCM) is genetically heterogeneous and characterized by left ventricular hypertrophy, myocardial fibrosis, and diverse clinical manifestations. Although circulating microRNAs (miRNAs) are promising biomarkers of pathological cardiac remodeling, the correlation of these miRNAs with specific clinical characteristics of HCM remains unclear. Therefore, we systematically reviewed and quantified the correlation between circulating miRNAs and structural and functional cardiac parameters in HCM.</p><p><strong>Methods: </strong>This systematic review and meta-analysis of observational studies evaluated the association between circulating miRNA expression levels and Echocardiography, magnetic resonance imaging, and histological parameters for HCM. We comprehensively searched the PubMed, Embase, Scopus, and Web of Science databases, and extracted and transformed correlation coefficients into Fisher's Z-scores. The study was registered with PROSPERO under registration number CRD420251058653. Meta-analyses were conducted using random-effects models, and heterogeneity was assessed using the I² statistic. Sensitivity analyses, meta-regression, and publication bias were also assessed.</p><p><strong>Results: </strong>A total of 11 studies comprising 633 patients were included. Pooled analysis showed moderate-to-strong positive correlations between miRNAs (miR-21, miR-29a, miR-199a-5p, and miR-27a) and myocardial fibrosis, wall thickness, and left ventricular mass (r = 0.53; 95% confidence interval 0.40-0.64; I² = 60.1%). Sensitivity and meta-regression analyses confirmed the robustness of the results, with no significant publication bias. The risk-of-bias assessment (Quality Assessment of Diagnostic Accuracy Studies 2) revealed moderate concerns, primarily related to patient selection and index-test blinding.</p><p><strong>Conclusion: </strong>Circulating miRNAs were significantly correlated with structural and functional cardiac changes in HCM, supporting the potential role of these miRNAs as noninvasive biomarkers. However, further high-quality studies are needed to validate their clinical applicability.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 2","pages":"47633"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148400143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic Analysis Revealed Hotspots of Genetic Adaptation and Risk of Disappearance in Brazilian Goat Populations.","authors":"Francisco de Assis Diniz Sobrinho, Ronaldo Cunha Coelho, Jeane de Oliveira Moura, Igor Ferreira do Nascimento, Miklos Maximiliano Bajay, Leonardo Castelo Branco Carvalho, Fábio Barros Britto, José Lindenberg Rocha Sarmento, Danielle Maria M Ribeiro Azevêdo, Salvatore Mastrangelo, Layonel Alves de Sousa, Adriana Mello de Araújo","doi":"10.31083/FBS43536","DOIUrl":"10.31083/FBS43536","url":null,"abstract":"<p><strong>Background: </strong>The conservation of genetic resources is crucial for maintaining biological diversity and ensuring the sustainability of animal production. Characterizing regions of homozygosity (ROHs), heterozygosity-rich regions (HRRs), and levels of inbreeding is crucial for the management and conservation of livestock populations. In Brazil, little is known about these genomic parameters in Marota goats. Thus, this study aimed to evaluate these characteristics to support conservation strategies for these breeds.</p><p><strong>Methods: </strong>Genomic analyses were conducted using the Illumina Goat SNP50 BeadChip to investigate ROH, HRR, and to estimate the inbreeding coefficient derived from ROHs (F_ROH) in Marota and Anglo-Nubian goats. This study evaluated 192 individuals from three distinct herds. ROHs were classified according to their length; genes located within both ROH and HRR regions were identified and functionally annotated to explore their potential biological significance.</p><p><strong>Results: </strong>Genomic analysis identified a total of 22,872 ROHs in the studied goats. The average number of ROHs per individual varied between breeds, with Anglo-Nubian goats exhibiting an average of 74.73 ROHs, while Marota goats had an average of 173.85 ROHs. Inbreeding coefficients based on ROHs in Marota goats varied widely (0.040-0.283), reflecting recent reductions in effective population size. Functional annotation revealed that several genes with overlapping ROH and HRR islands, such as <i>ZBTB11</i>, <i>IL18</i>, and <i>LPO</i>, were significantly enriched in immune-related pathways. Additionally, candidate genes associated with adaptive traits, such as <i>TEX12</i>, <i>YPEL5</i>, <i>CAPN14</i>, and <i>GALNT14</i>, were identified and were linked to embryonic development, body growth, lipid metabolism, and brain function.</p><p><strong>Conclusion: </strong>The ROHs and HRRs analyses in Marota and Anglo-Nubian goats revealed distinct patterns of genomic inbreeding and potential adaptive genetic regions. These findings emphasize the genetic distinctiveness of the Marota breed and underscore the importance of incorporating genomic data into conservation planning. The identification of candidate genes in islands with ROHs and HRRs provides valuable insights for guiding conservation priorities and managing genetic diversity in Brazilian goat populations.</p>","PeriodicalId":73070,"journal":{"name":"Frontiers in bioscience (Scholar edition)","volume":"18 2","pages":"43536"},"PeriodicalIF":0.0,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148400207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}