Genetics and Molecular Biology最新文献_第4页

Molecular perspectives on life-history evolution in Bruchinae seed beetles. Bruchinae种甲虫生活史进化的分子视角。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-07-10 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0211

Bruno de Oliveira Cruz, Alessandro de Mello Varani, Sílvia de Oliveira Miranda, Juliana Ramos Martins, Daniel Guariz Pinheiro, Angel Roberto Barchuk

{"title":"Molecular perspectives on life-history evolution in Bruchinae seed beetles.","authors":"Bruno de Oliveira Cruz, Alessandro de Mello Varani, Sílvia de Oliveira Miranda, Juliana Ramos Martins, Daniel Guariz Pinheiro, Angel Roberto Barchuk","doi":"10.1590/1678-4685-GMB-2025-0211","DOIUrl":"10.1590/1678-4685-GMB-2025-0211","url":null,"abstract":"Phytophagous beetles represent one of the largest groups of plant-feeding insects. With about 135,000 described species, they exploit seeds, leaves, stems, and wood. Within this diversity, the subfamily Bruchinae has a distinctive ecological niche: larvae develop inside legume seeds. These beetles are major agricultural pests, responsible for up to 20% losses in legume grain value. This yield loss represents a severe problem, as legumes provide essential dietary protein for roughly 75% of people in developing countries. Despite their importance, the molecular foundations of life-history traits facilitating Bruchinae adaptation to seeds have only recently begun to be explored, leaving current knowledge sparse and fragmented. This review synthesizes current knowledge of the molecular mechanisms underlying the nutritional and digestive challenges faced by beetles during seed infestation, reproduction, and development, as well as during host shifts to novel or unusual legumes. Drawing on well-established examples, it examines key processes involved in the co-evolutionary dynamics between phytophagous insects and their host plants, while highlighting recent genomic advances that are accelerating discovery in these fields. Collectively, the review integrates both historical and contemporary molecular perspectives on life-history evolution in Bruchinae seed beetles.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250211"},"PeriodicalIF":1.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13383216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Relationship between biomarkers and stroke risk in sickle cell disease odds in an Amazon folk. 生物标志物与亚马逊地区镰状细胞病卒中风险的关系

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-07-10 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0107

Greice de L Cardoso-Costa, Fernando Mendes Paschoal Junior, Bruno Miranda, Alessandro Cardoso Rodrigues, Giovanna C Cavalcante, Caio S Silva, Saide Maria Sarmento Trindade, Sergio Antônio Batista Dos Santos, Milene Moraes Raiol, Cristina Maria Duarte Valente, Leticia Dias Martins, Nelson Machado da Silva de Lima, Joelma Karin Sagica Fernandes Paschoal, Fernanda Andreza P L Figueiredo, Sidney Santos, Eric Homero Albuquerque Paschoal, Ândrea Ribeiro-Dos-Santos

{"title":"Relationship between biomarkers and stroke risk in sickle cell disease odds in an Amazon folk.","authors":"Greice de L Cardoso-Costa, Fernando Mendes Paschoal Junior, Bruno Miranda, Alessandro Cardoso Rodrigues, Giovanna C Cavalcante, Caio S Silva, Saide Maria Sarmento Trindade, Sergio Antônio Batista Dos Santos, Milene Moraes Raiol, Cristina Maria Duarte Valente, Leticia Dias Martins, Nelson Machado da Silva de Lima, Joelma Karin Sagica Fernandes Paschoal, Fernanda Andreza P L Figueiredo, Sidney Santos, Eric Homero Albuquerque Paschoal, Ândrea Ribeiro-Dos-Santos","doi":"10.1590/1678-4685-GMB-2025-0107","DOIUrl":"10.1590/1678-4685-GMB-2025-0107","url":null,"abstract":"Sickle cell disease (SCD) is defined by important heterogeneity between patients, but this clinical presentation mutability is not well understood. Therefore, this immense phenotypic variability calls for research into risk factors associated with greater chance of developing stroke in a specific population at Amazon forest. This study sought to explore the relationship between genetic markers of inflammatory process and the clinical risk of stroke in people with sickle cell anemia. The authors presented 70 patients (87.5%) were classified in group 1, without a stroke clinic, and 10 patients (12.5%) in group 2, with this clinic. These groups were subdivided in relation to the Doppler examination. Detailed analysis of genetic polymorphisms in specific subgroups revealed that variants in the CYP19A1 and MDM2 genes, in the group of patients without clinical stroke, showed statistical significance, indicating a possible protective effect against the stroke phenotype. Among patients who had a stroke, the variant in the CASP8 gene was statistically significant, suggesting that some genotypes may have a greater effect on the evolution of the stroke in patients with sickle cell anemia. Future studies should seek to include more patients with complete Doppler data and explore other variables that may affect stroke risk.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 4 Suppl 4","pages":"e20250107"},"PeriodicalIF":1.7,"publicationDate":"2026-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13383251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148430260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Obesity in young adults: The differentiated impact of LEP, LEPR, and FTO gene variants. 年轻人肥胖：LEP、LEPR和FTO基因变异的差异影响

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-07-03 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0265

Leandro da Rocha Lima, Roberta Luisa Barbosa Leal, Marcos Vinícius Guimarães Soares, Gabriela Eduardo França de Araujo, Ana Beatriz Martins Topciu Fonseca, Alessandra Dos Santos Ribeiro, Beatriz de Abreu Lopes de Azevedo, Marcelo Ribeiro-Alves, Kenia Balbi El-Jaick

{"title":"Obesity in young adults: The differentiated impact of LEP, LEPR, and FTO gene variants.","authors":"Leandro da Rocha Lima, Roberta Luisa Barbosa Leal, Marcos Vinícius Guimarães Soares, Gabriela Eduardo França de Araujo, Ana Beatriz Martins Topciu Fonseca, Alessandra Dos Santos Ribeiro, Beatriz de Abreu Lopes de Azevedo, Marcelo Ribeiro-Alves, Kenia Balbi El-Jaick","doi":"10.1590/1678-4685-GMB-2025-0265","DOIUrl":"10.1590/1678-4685-GMB-2025-0265","url":null,"abstract":"Obesity is a global public health issue, increasingly affecting young adults. Its association with other diseases highlights the urgency of developing prevention strategies. Genetic factors play a significant role in susceptibility to obesity, making the identification of risk-associated variants essential for prevention strategies. Therefore, this study aimed to analyze LEP, LEPR, and FTO variants as potential genetic risk factors for obesity in Brazilians aged 18-35 years. The participants were classified with, or without obesity/overweight. Genotyping was performed by ASO-PCR, RFLP, and DNA sequencing. A questionnaire was applied to collect anthropometric data, and personal and family medical history. Preliminary analyses indicated that obesity was significantly associated with individuals over 25 years of age; therefore, to specifically investigate early-onset obesity, the primary genetic association analyses were restricted to the 18-25 age group. A significant association was found between the LEP rs7799039 variant and BMI ≥ 25 Kg/m², and LEP rs17151919 was strongly associated with BMI ≥ 30 Kg/m² in this age group. These findings underscore the importance of identifying genetic variants that increase the risk of obesity in young adults and suggest contributing to the development of more effective and personalized prevention strategies, integrating knowledge from genetics, medicine, and nutrition.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 2","pages":"e20250265"},"PeriodicalIF":1.7,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13331066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148381986","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Evaluation of the occurrence of multiple paternity in Squalus acanthias in the South Atlantic region using nuclear markers. 利用核标记评价南大西洋地区棘角鲨多父性的发生。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-07-03 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2026-0013

Beatriz Rochitti Boza, Yan Torres, Gabriel Monteiro de Lima, Sergio Matías Delpiani, Gabriela Delpiani, Fausto Foresti, Claudio Oliveira, Vanessa Paes da Cruz

{"title":"Evaluation of the occurrence of multiple paternity in Squalus acanthias in the South Atlantic region using nuclear markers.","authors":"Beatriz Rochitti Boza, Yan Torres, Gabriel Monteiro de Lima, Sergio Matías Delpiani, Gabriela Delpiani, Fausto Foresti, Claudio Oliveira, Vanessa Paes da Cruz","doi":"10.1590/1678-4685-GMB-2026-0013","DOIUrl":"10.1590/1678-4685-GMB-2026-0013","url":null,"abstract":"Understanding shark reproductive modes is crucial for conservation, as these K-strategist species are vulnerable to overexploitation. The spiny dogfish (Squalus acanthias), a small shark listed as 'vulnerable' by the IUCN, has a 22-month gestation period and a reproductive output ranging from 1 to 21 pups per litter. This study aimed to investigate multiple paternity in S. acanthias using Single Nucleotide Polymorphism (SNP) markers. Samples from six litters, comprising 40 individuals collected in Argentina, were analyzed using a ddRADseq library. SNP markers were screened with the STACKS pipeline, and kinship and paternity were analyzed using COANCESTRY and COLONY software. Results revealed 1,021 to 1,620 SNPs per litter, with multiple paternity detected in all litters. The number of sires per litter ranged from 2 to 4. No correlation was found between litter size and multiple paternity, suggesting this behavior may enhance genetic diversity. The species' size and sex segregation, coupled with females in shallower waters, increase their vulnerability to fishing pressure. Overfishing and bycatch exacerbate the reduction in sexually mature individuals, threatening population recovery. This study highlights the need for management policies that incorporate reproductive strategies, especially for species like S. acanthias with complex life histories and low recovery rates.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 2","pages":"e20260013"},"PeriodicalIF":1.7,"publicationDate":"2026-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13331067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Reconstruction of the evolutionary landscape of biological processes involved in the early stages of the metastatic cascade. 在转移级联的早期阶段涉及的生物过程的进化景观的重建。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-06-29 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0197

Gleison M Azevedo, Epitácio Farias, João Vitor F Cavalcante, Rafaella S Ferraz, Bruno William, Diego M Coelho, Rodrigo J S Dalmolin

{"title":"Reconstruction of the evolutionary landscape of biological processes involved in the early stages of the metastatic cascade.","authors":"Gleison M Azevedo, Epitácio Farias, João Vitor F Cavalcante, Rafaella S Ferraz, Bruno William, Diego M Coelho, Rodrigo J S Dalmolin","doi":"10.1590/1678-4685-GMB-2025-0197","DOIUrl":"10.1590/1678-4685-GMB-2025-0197","url":null,"abstract":"Metastasis is not a de novo functional module innovation but rather the pathological redeployment of deeply conserved biological programs. Here, we reconstruct the evolutionary landscape of biological functions involved in the early stages of the metastatic cascade, including cell adhesion, extracellular matrix organization (ECM), regulation of metallopeptidase activity, cell junction organization, epithelial-mesenchymal transition (EMT), and cellular extravasation alongside the physiological constraints that suppress them (Metastasis Suppressor Genes). Using phyletic pattern reconstruction of 787 orthologs across 473 Clusters of Orthologous Groups with the Bridge algorithm, we identified a divergence between the evolutionary timelines of metastasis-enabling programs and metastasis suppressors. Our results indicate that the molecular systems associated with the structural capacity for tumor dissemination are evolutionary ancient. ECM organization traces to the Human-Discoba last common ancestor, EMT to Ctenophora, cell adhesion to Sauropsida, and cellular extravasation to Actinopterygii. In contrast, mechanisms responsible for suppressing genomically unstable cells during continuous tissue renewal emerged later, peaking in the vertebrate lineage. These findings support the Serial Atavism Model and suggest that metastasis arises from the progressive erosion of recently evolved regulatory constraints, allowing the reactivation of ancestral cellular programs that predate complex multicellularity.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 suppl 2","pages":"e20250197"},"PeriodicalIF":1.7,"publicationDate":"2026-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13329720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148368027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Assessment of the bacterial community of the human upper respiratory tract in patients affected by Covid-19. 新型冠状病毒感染患者上呼吸道细菌群落评估

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-06-26 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0076

Daniel Guasselli, Sávio Costa, Gleyciane Costa, Rennan Moreira, Guilherme Baião, Rafael Baraúna, Artur Silva, Diego Graças

{"title":"Assessment of the bacterial community of the human upper respiratory tract in patients affected by Covid-19.","authors":"Daniel Guasselli, Sávio Costa, Gleyciane Costa, Rennan Moreira, Guilherme Baião, Rafael Baraúna, Artur Silva, Diego Graças","doi":"10.1590/1678-4685-GMB-2025-0076","DOIUrl":"10.1590/1678-4685-GMB-2025-0076","url":null,"abstract":"Given the challenges posed by the 2019 coronavirus disease (COVID-19), understanding the role of the microbiota is crucial. The analysis of this microbial community in the body not only expands our understanding of health, but also provides insights into the interaction between viruses, microbiota, and the human host. In this study, we aimed to identify possible variations in bacterial diversity caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). The study involved 45 volunteers, divided into the Positive Group (PG) consisting of 14 patients and the Negative Group (NG) consisting of 31 individuals. Both groups were stratified by biological sex to ensure sample homogeneity. Samples were collected using nasopharyngeal and oropharyngeal swabs, and total DNA was extracted and stored. The V4 region of the 16S rRNA gene was sequenced, and bioinformatics tools were used to assess the composition and diversity of the respiratory microbiota. In our results, the most abundant bacterial phyla were: Firmicutes, Bacteroidetes, and Proteobacteria. There was a notable reduction in the frequency of Firmicutes in the PG, suggesting a potential compromise in the immune response to viral infection. Beta diversity analysis did not reveal significant variations between the communities of the groups. Additionally, the analysis indicated subtle changes in some taxa, such as an increase in the abundance of Neisseriaceae in patients affected by COVID-19. These findings contribute to a deeper understanding of the complex interaction between the virus, the microbiota, and the host during infection with SARS-CoV-2, highlighting the importance of the respiratory microbiota in the context of COVID-19.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 4 Suppl 4","pages":"e20250076"},"PeriodicalIF":1.7,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13322582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 candidate genes to omics: Unbiased approaches reshaping arthropod Evo-Devo. 从候选基因到组学：无偏倚的方法重塑节肢动物进化-进化。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-06-26 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0217

João Vieira, Rodrigo Nunes-da-Fonseca

{"title":"From candidate genes to omics: Unbiased approaches reshaping arthropod Evo-Devo.","authors":"João Vieira, Rodrigo Nunes-da-Fonseca","doi":"10.1590/1678-4685-GMB-2025-0217","DOIUrl":"10.1590/1678-4685-GMB-2025-0217","url":null,"abstract":"Drosophila melanogaster established the candidate-gene paradigm that shaped arthropod evolutionary developmental biology (Evo-Devo) for decades. Genome-wide methods-bulk RNA-seq, single-cell/single-nucleus transcriptomics, chromatin profiling (ATAC-seq, CUT&Tag/CUT&RUN), and 3D genome mapping (Hi-C)-now enable direct interrogation of gene regulatory networks (GRNs) in non-model arthropods. Here we review how these approaches have already uncovered lineage-restricted regulators, resolved cell-type trajectories, and mapped cis-regulatory landscapes across diverse clades. We then take a critical view of their scope and limitations: success depends on high-quality genomes and annotations, careful staging and replication, mitigation of dissociation and ambient-RNA artifacts, and robust cross-species mapping of orthology and cell-type homology. At the regulatory level, linking distal accessible sites to target genes remains a central challenge that often requires integrating chromatin and conformation data with functional perturbations. Progress in this field is further supported by the development and adaptation of enabling tools, such as low-input chemistries (e.g., CUT&Tag), single-nucleus and spatial workflows, and the availability of improved genome assemblies and computational frameworks for multi-omic integration. Ultimately, we argue that the integration of these techniques-especially perturbation with multi-omic data across diverse species-is the key to transforming descriptive regulatory 'maps' into a mechanistic understanding of evolution.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 2 Suppl 2","pages":"e20250217"},"PeriodicalIF":1.7,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13312856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148375419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Simultaneous evaluation of EGFR, ALK, and PD-L1 in lung adenocarcinomas: the largest single-center experience from southern Brazil. 肺腺癌中EGFR、ALK和PD-L1的同时评估：巴西南部最大的单中心研究

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-06-26 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0150

Daniel Cury Ogata, Matheus Mariotti Daniel, Bruno Vargas, Kauí Lebarbenchon, Guilherme Zappelini Zanette, Rafael Simas, Luciana Depiere Lanzarin, Fernanda Herbstrith Sampaio

{"title":"Simultaneous evaluation of EGFR, ALK, and PD-L1 in lung adenocarcinomas: the largest single-center experience from southern Brazil.","authors":"Daniel Cury Ogata, Matheus Mariotti Daniel, Bruno Vargas, Kauí Lebarbenchon, Guilherme Zappelini Zanette, Rafael Simas, Luciana Depiere Lanzarin, Fernanda Herbstrith Sampaio","doi":"10.1590/1678-4685-GMB-2025-0150","DOIUrl":"10.1590/1678-4685-GMB-2025-0150","url":null,"abstract":"Lung cancer is a highly prevalent disease and the leading cause of cancer-related deaths worldwide. Among non-small cell lung carcinomas (NSCLC), adenocarcinoma is one of the most common subtypes. This retrospective study aimed to analyze the prevalence of epidermal growth factor receptor (EGFR) mutations and programmed death-ligand 1 (PD-L1) expression in patients with confirmed lung adenocarcinoma, based on pathology reports from 2019 to 2024. Patients were assessed by sex, age, PD-L1 expression, and presence of EGFR and ALK mutations. A total of 895 patients were included, mostly male, with an average age of 65.85 years. EGFR mutations were identified in 24.4% of the cases, predominantly exon 19 deletions (50.2%), with women accounting for 70.3% of those mutations. PD-L1 expression, determined by the tumor proportion score (TPS), was high (TPS ≥ 50%) in 28.9%, low (1 ≤ TPS ≤ 49%) in 26.3%, and absent (TPS < 1%) in 44.8% of patients. ALK mutations were found in 5.1% of cases, mostly among younger individuals. Findings on EGFR mutations were consistent with the national and international literature. However, PD-L1 expression rates were higher than those typically reported in Brazilian studies, highlighting regional variation in biomarker prevalence.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 2","pages":"e20250150"},"PeriodicalIF":1.7,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13317434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148351737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Variant profile of Brazilian patients with Sanfilippo syndrome type B. 巴西B型Sanfilippo综合征患者的变异谱

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-06-26 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0174

Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Kristiane Michelin-Tirelli, Fernanda Medeiros Sebastião, Franciele Barbosa Trapp, Roberto Giugliani, Guilherme Baldo

{"title":"Variant profile of Brazilian patients with Sanfilippo syndrome type B.","authors":"Alice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Kristiane Michelin-Tirelli, Fernanda Medeiros Sebastião, Franciele Barbosa Trapp, Roberto Giugliani, Guilherme Baldo","doi":"10.1590/1678-4685-GMB-2025-0174","DOIUrl":"10.1590/1678-4685-GMB-2025-0174","url":null,"abstract":"Mucopolysaccharidosis type IIIB (MPS IIIB, or Sanfilippo syndrome type B) is a lysosomal storage disorder caused by variants in the NAGLU gene, leading to heparan sulfate accumulation. This study analyzed 27 MPS IIIB Brazilian patients diagnosed via the MPS Brazil Network (2014-2022). Diagnosis involved biochemical tests [NAGLU enzyme activity, urinary glycosaminoglycans (GAG)], showing expected low activity of the enzyme and high concentration of GAGs. Molecular analysis of the NAGLU gene by Sanger sequencing or Targeted Next-Generation Sequencing confirmed the diagnosis. Forty-nine variants were found across patient alleles, comprising twenty-two different variants. Two variants were described for the first time: p.Gly79Arg and p.Leu598Pro (both missense). In silico tools predicted the novel variants as damaging/deleterious. The study identified 90.7% of the expected mutant alleles, observing variant heterogeneity and a higher frequency of missense variants. This characterization enhances understanding of the Brazilian MPS IIIB genetic landscape and is instrumental to the design of diagnostic and screening strategies.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 2","pages":"e20250174"},"PeriodicalIF":1.7,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13317435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148351722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Protective effects of human umbilical cord mesenchymal stem cells-derived small extracelluar vesicles on corneal epithelial cells under hyperosmotic stress: Inhibition of oxidative damage and inflammation. 人脐带间充质干细胞来源的细胞外小泡对高渗应激下角膜上皮细胞的保护作用：氧化损伤和炎症的抑制。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2026-06-12 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0026

Chengyu Peng, Mingqi Zhang, Yuqing Bao, Zhuoshi Wang, Fenglei Zhang, Wei He

{"title":"Protective effects of human umbilical cord mesenchymal stem cells-derived small extracelluar vesicles on corneal epithelial cells under hyperosmotic stress: Inhibition of oxidative damage and inflammation.","authors":"Chengyu Peng, Mingqi Zhang, Yuqing Bao, Zhuoshi Wang, Fenglei Zhang, Wei He","doi":"10.1590/1678-4685-GMB-2025-0026","DOIUrl":"10.1590/1678-4685-GMB-2025-0026","url":null,"abstract":"Dry eye disease (DED) is often associated with corneal epithelial injury under hyperosmotic stress, which contributes to epithelial cell apoptosis and delay wound healing. Human Umbilical Cord Mesenchymal Stem Cell-derived Small Extracellular Vesicles (hUC-MSCs-sEVs) have emerged as promising therapeutic agents due to their anti-inflammatory, anti-apoptotic, and regenerative properties. In this study, we isolated and characterized hUC-MSCs-sEVs and assessed their therapeutic potential in hyperosmotic corneal epithelial injury. We demonstrated that hUC-MSCs-sEVs significantly promoted human corneal epithelial cell proliferation and repair under hyperosmotic conditions, reducing oxidative stress and preserving mitochondrial function. Additionally, hUC-MSCs-sEVs inhibited the expression of pro-inflammatory cytokines IL-6 and IL-1β, as well as downregulated the cGAS-STING signaling pathway, a critical mediator of inflammation. These findings suggest that hUC-MSCs-sEVs may offer a novel therapeutic strategy for treating hyperosmotic stress-induced corneal epithelial damage by mitigating oxidative stress, preserving mitochondrial integrity, and modulating inflammatory responses.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 2","pages":"e20250026"},"PeriodicalIF":1.7,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13262691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148239114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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