GenesPub Date : 2025-07-21DOI: 10.3390/genes16070847
Mariam M AlEissa, Abrar A Alhawsawi, Raghad Alonazi, Enas Magharbil, Abeer Aljahdali, Hani B AlBalawi, Naif M Alali, Syed Hameed, Khaled K Abu-Amero, Moustafa S Magliyah
{"title":"Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions.","authors":"Mariam M AlEissa, Abrar A Alhawsawi, Raghad Alonazi, Enas Magharbil, Abeer Aljahdali, Hani B AlBalawi, Naif M Alali, Syed Hameed, Khaled K Abu-Amero, Moustafa S Magliyah","doi":"10.3390/genes16070847","DOIUrl":"10.3390/genes16070847","url":null,"abstract":"<p><p>Gene therapy has emerged as a promising treatment for several eye diseases since it may restore vision and stop blindness. Many eye diseases, including retinitis pigmentosa and macular degeneration, have historically been rather difficult to treat and usually cause permanent vision loss. However, thanks to advances in gene therapy, many disorders can now be effectively targeted and genetically changed, providing a safer, more direct, maybe even curative approach. By introducing, altering, or repairing specific genes inside the eye, gene therapy seeks to fix the defective genes causing these disorders, thereby improving general eye health and visual ability. Voretigene neparvovec is one FDA- and EMA-approved treatment for <i>RPE65</i> mutations. Retinitis pigmentosa, age-related macular degeneration, X-linked retinoschisis, choroideremia, and Stargardt disease are among the several eye disorders still under clinical trials, and experimental treatment is in progress. As research on gene therapy develops, it opens the path for groundbreaking treatments that could fundamentally change the ophthalmic care scene.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729698","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}
GenesPub Date : 2025-07-21DOI: 10.3390/genes16070848
Mariam M AlEissa, Abrar A Alhawsawi, Doaa Milibari, Patrik Schatz, Hani B AlBalawi, Naif M Alali, Khaled K Abu-Amero, Syed Hameed, Moustafa S Magliyah
{"title":"Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.","authors":"Mariam M AlEissa, Abrar A Alhawsawi, Doaa Milibari, Patrik Schatz, Hani B AlBalawi, Naif M Alali, Khaled K Abu-Amero, Syed Hameed, Moustafa S Magliyah","doi":"10.3390/genes16070848","DOIUrl":"10.3390/genes16070848","url":null,"abstract":"<p><p>Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are <i>COL18A1</i>, <i>FBN1</i>, and <i>LAMB2</i>, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to <i>LRPAP1</i> and <i>LEPREL1</i>. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia's healthcare system.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729812","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":"Mitogenome Characteristics and Intracellular Gene Transfer Analysis of Four <i>Adansonia</i> Species.","authors":"Tingting Hu, Fengjuan Zhou, Lisha Wang, Xinwei Hu, Zhongxiang Li, Xinzeng Li, Daoyuan Zhou, Hui Wang","doi":"10.3390/genes16070846","DOIUrl":"10.3390/genes16070846","url":null,"abstract":"<p><p><i>Adansonia</i> L. (1753) belongs to the family Malvaceae and is commonly known as the baobab tree. This species holds significant cultural and ecological value and is often referred to as the 'tree of life.' Although its nuclear genome has been reported, the mitogenome has not yet been studied. Mitogenome research is crucial for understanding the evolution of the entire genome. In this study, we assembled and analyzed the mitogenomes of four <i>Adansonia</i> species by integrating short-read and long-read data. The results showed that the mitogenomes of all four <i>Adansonia</i> species were resolved as single circular sequences. Their total genome lengths ranged from 507,138 to 607,344 bp and contained a large number of repetitive sequences. Despite extensive and complex rearrangements between the mitogenomes of <i>Adansonia</i> and other Malvaceae species, a phylogenetic tree constructed based on protein-coding genes clearly indicated that <i>Adansonia</i> is more closely related to the <i>Bombax</i>. Selection pressure analysis suggests that the <i>rps4</i> gene in <i>Adansonia</i> may have undergone positive selection compared to other Malvaceae species, indicating that this gene may play a significant role in the evolution of <i>Adansonia</i>. Additionally, by analyzing intracellular gene transfer between the chloroplast, mitochondria, and nuclear genomes, we found that genes from the chloroplast and mitochondria can successfully transfer to each chromosome of the nuclear genome, and the <i>psbJ</i> gene from the chloroplast remains intact in both the mitochondrial and nuclear genomes. This study enriches the genetic information of <i>Adansonia</i> and provides important evidence for evolutionary research in the family Malvaceae.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12295798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729824","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":"Global Transcriptome and Weighted Gene Co-Expression Network Analyses of Cold Stress Responses in Chinese Cabbage.","authors":"Jizong Zhang, Songtao Liu, Huibin Li, Mengmeng Sun, Baoyue Yan, Peng Zhang, Lifeng Zhang","doi":"10.3390/genes16070845","DOIUrl":"10.3390/genes16070845","url":null,"abstract":"<p><strong>Background/objectives: </strong>Chinese cabbage (<i>Brassica rapa</i> ssp. <i>Pekinensis</i>, AA) growth and development is highly sensitive to cold temperatures. Prolonged low-temperature exposure during early growth stages can induce premature bolting, which reduces market quality and yield.</p><p><strong>Methods: </strong>Here, using comparative leaf RNA-seq transcriptome analysis of plants grown at 6, 9, 12, and 15 °C, we explored key genes and metabolic pathways regulating Chinese cabbage cold response.</p><p><strong>Results: </strong>RNA-seq transcriptome analysis identified a total of 1832 differentially expressed genes (DEGs) in the three comparison groups, with 5452, 1861, and 752 DEGs specifically expressed in the A6_vs_A15, A9_vs_A15, and A12_vs_A15 groups, respectively. KEGG enrichment analysis of DEGs showed that sulfur metabolism, secondary metabolites biosynthesis and photosynthesis pathways were mostly affected by cold stress. K-means clustering revealed distinct expression profiles among the DEGs enriched in cold stress response-associated clusters. Subsequently, DEGs were divided into 18 modules by WGCNA, whereupon co-expression genes that clustered into similar modules exhibited diverse expression and were annotated to various GO terms at different temperatures. Module-trait association analysis revealed M1, M2, M3, and M6 modules as key clusters potentially linked to vernalization-related processes. These modules harbored candidate hub genes encoding transcription factors (including MYB, bZIP, and WRKY), protein kinases, and cold-stress-responsive genes. Additionally, phenotypic analysis showed that 12 °C to 15 °C supported optimal growth, whereas <9 °C temperature inhibited growth. Physiological measurements showed increased antioxidant enzyme activity and proline accumulation at 6 °C.</p><p><strong>Conclusions: </strong>Overall, our study provides a set of candidate cold-stress-responsive genes and co-expression modules that may support cold stress tolerance breeding in Chinese cabbage.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729843","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}
GenesPub Date : 2025-07-20DOI: 10.3390/genes16070844
Michał Czerewaty, Łukasz Ustianowski, Kajetan Kiełbowski, Estera Bakinowska, Krzysztof Safranow, Maciej Tarnowski, Tomasz Sroczyński, Andrzej Pawlik
{"title":"Placental Expression of Sirtuins in Women with Gestational Diabetes.","authors":"Michał Czerewaty, Łukasz Ustianowski, Kajetan Kiełbowski, Estera Bakinowska, Krzysztof Safranow, Maciej Tarnowski, Tomasz Sroczyński, Andrzej Pawlik","doi":"10.3390/genes16070844","DOIUrl":"10.3390/genes16070844","url":null,"abstract":"<p><strong>Background/objectives: </strong>Gestational diabetes mellitus (GDM) is a common metabolic disorder in pregnant women. It can lead to several complications, such as preterm delivery, macrosomia, or metabolic disorders in newborns. Studies have revealed morphological and transcriptional differences between the placentas of patients with GDM and women with normal glucose tolerance. Sirtuins (SIRTs) are nicotinamide adenine dinucleotide-dependent deacetylases that interact with and regulate the activity of numerous proteins. However, little is known about their role in the pathogenesis of GDM. This study was performed to analyze the placental expression of SIRTs and investigate their correlations with clinical parameters.</p><p><strong>Methods: </strong>GDM was diagnosed based on the 75 g oral glucose tolerance test in accordance with the criteria developed by the International Association of Diabetes and Pregnancy Study Groups. Placental tissues were collected, and the expression of <i>SIRT1,-3,-4</i> and a reference gene (β-2 microglobulin) was analyzed.</p><p><strong>Results: </strong>The placental expression of <i>SIRT1</i> and <i>SIRT3</i> was elevated in women with GDM. However, there was no significant difference in <i>SIRT4</i> expression between women with GDM and those with normal glucose tolerance. Furthermore, we found no significant correlations between <i>SIRT1</i>, <i>SIRT3</i>, and <i>SIRT4</i> expression and clinical parameters.</p><p><strong>Conclusions: </strong>The findings of this study demonstrate elevated expression of <i>SIRT1</i> and <i>SIRT3</i> in the placentas of women with GDM. Further studies are required to confirm our observations and demonstrate the precise role of these enzymes in GDM.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729792","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}
GenesPub Date : 2025-07-19DOI: 10.3390/genes16070842
Mathilde Saint-Jean, Olivier Claisse, Claire Le Marrec, Johan Samot
{"title":"Structural and Genetic Diversity of Lysis Modules in Bacteriophages Infecting the Genus <i>Streptococcus</i>.","authors":"Mathilde Saint-Jean, Olivier Claisse, Claire Le Marrec, Johan Samot","doi":"10.3390/genes16070842","DOIUrl":"10.3390/genes16070842","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Bacteriophages infecting the genus <i>Streptococcus</i> play a crucial role in microbial ecology and have potential applications in biotechnology and medicine. Despite their importance, significant gaps remain in our understanding of their lysis modules. This study aims to address these deficiencies by analyzing the genomic diversity and lysis module organization in <i>Streptococcus</i> phages. <b>Methods</b>: A search was conducted in the NCBI RefSeq database to identify phage genomes infecting <i>Streptococcus</i>. A representative panel was selected based on taxonomic diversity. Lysis modules were annotated and visualized, functional domains in endolysins were identified, and holins were characterized. <b>Results</b>: A total of 205 phage genomes were retrieved from the NCBI RefSeq database, of which 185 complete genomes were analyzed. A subset of 34 phages was selected for in-depth analysis, ensuring the representation of taxonomic diversity. The lysis modules were annotated and visualized, revealing five distinct organizations. Among the 256 identified endolysins, 25 distinct architectural organizations were observed, with amidase activity being the most prevalent. Holins were classified into 9 of the 74 families listed in the Transporter Classification Database, exhibiting one to three transmembrane domains. <b>Conclusions</b>: This study provides insights into the structural diversity of lysis modules in <i>Streptococcus</i> phages, paving the way for future research and potential biotechnological applications.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729834","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}
GenesPub Date : 2025-07-19DOI: 10.3390/genes16070841
Pablo Cáceres, Paulina López, Carolina Araya, Daniela Cichero, Liane N Bassini, José M Yáñez
{"title":"Uncovering Allele-Specific Expression Patterns Associated with Sea Lice (<i>Caligus rogercresseyi</i>) Burden in Atlantic Salmon.","authors":"Pablo Cáceres, Paulina López, Carolina Araya, Daniela Cichero, Liane N Bassini, José M Yáñez","doi":"10.3390/genes16070841","DOIUrl":"10.3390/genes16070841","url":null,"abstract":"<p><p>Background/Objetives: Sea lice (<i>Caligus rogercresseyi</i>) pose a major threat to Atlantic salmon (<i>Salmo salar</i>) aquaculture by compromising fish health and reducing production efficiency. While genetic variation in parasite load has been reported, the molecular mechanisms underlying this variation remain unclear.</p><p><strong>Methods: </strong>two sea lice challenge trials were conducted, achieving high infestation rates (47.5% and 43.5%). A total of 85 fish, selected based on extreme phenotypes for lice burden (42 low, 43 high), were subjected to transcriptomic analysis. Differential gene expression was integrated with allele-specific expression (ASE) analysis to uncover cis-regulatory variation influencing host response.</p><p><strong>Results: </strong>Sixty genes showed significant ASE (<i>p</i> < 0.05), including 33 overexpressed and 27 underexpressed. Overexpressed ASE genes included Keratin 15, Collagen IV/V, TRIM16, and Angiopoietin-1-like, which are associated with epithelial integrity, immune response, and tissue remodeling. Underexpressed ASE genes such as SOCS3, CSF3R, and Neutrophil cytosolic factor suggest individual variation in cytokine signaling and oxidative stress pathways.</p><p><strong>Conclusions: </strong>several ASE genes co-localized with previously identified QTLs for sea lice resistance, indicating that cis-regulatory variants contribute to phenotypic differences in parasite susceptibility. These results highlight ASE analysis as a powerful tool to identify functional regulatory elements and provide valuable candidates for selective breeding and genomic improvement strategies in aquaculture.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729849","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}
GenesPub Date : 2025-07-19DOI: 10.3390/genes16070843
Yaffa Serur, Odeya Russo, Chloe Alexa McGhee, Tamar Green
{"title":"Increased Prevalence of Psychiatric Disorders in Children with RASopathies: Comparing NF1, Noonan Syndrome Spectrum Disorder, and the General Population.","authors":"Yaffa Serur, Odeya Russo, Chloe Alexa McGhee, Tamar Green","doi":"10.3390/genes16070843","DOIUrl":"10.3390/genes16070843","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Neurofibromatosis type 1 (NF1) and Noonan syndrome spectrum disorders (NSSD) are the most common RASopathies, resulting from germline mutations that affect the RAS-MAPK signaling pathway. Both are associated with increased risk for neurodevelopmental and psychiatric conditions, yet few studies have used structured diagnostic interviews to compare their psychiatric comorbidities. <b>Methods:</b> We conducted clinician-administered DSM-5 diagnostic assessments (KSADS) in 123 children with RASopathies (NF1 = 29, NSSD = 94; ages 5-15). Diagnosis prevalence was compared within each group and to population-based estimates. <b>Results:</b> Psychiatric diagnoses were highly prevalent, at 79.3% in NF1 and 76.6% in NSSD, with ADHD (NF1 = 72.4%, NSSD = 51.1%) and anxiety disorders (NF1 = 37.9% and NSSD = 43.6%) being the most common, rates substantially higher than those reported in general population estimates. Behavioral and sleep disorders were identified in approximately 25% of both groups. Notably, social anxiety disorder was identified in 14.9% of NSSD but not in NF1. Full-scale IQ did not significantly differ by diagnosis status. Specific anxiety disorders, elimination disorders, obsessive-compulsive disorder, and post-traumatic stress disorder were characterized, expanding the known psychiatric phenotype of RASopathies. <b>Conclusions:</b> Children with NF1 and NSSD demonstrate similarly high rates of ADHD, anxiety, and behavioral disorders compared to the general population; in addition, we report sleep disorders in NSSD and characterize psychiatric disorders not previously described in RASopathies. The shared psychiatric profiles may reflect the common effect of RAS-MAPK pathway dysregulation on psychiatric outcomes. These findings highlight the need for early, syndrome-informed mental health screening and intervention in the clinical care of individuals with RASopathies.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294342/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729781","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}
GenesPub Date : 2025-07-18DOI: 10.3390/genes16070840
Karolina Nowosad, Małgorzata Ostrowska, Paweł Glibowski, Katarzyna Iłowiecka, Wojciech Koch
{"title":"Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of <i>CYP19</i>, <i>FTO</i>, <i>MC4R</i> and <i>INSR</i> Gene Polymorphisms with Clinical Symptoms of PCOS.","authors":"Karolina Nowosad, Małgorzata Ostrowska, Paweł Glibowski, Katarzyna Iłowiecka, Wojciech Koch","doi":"10.3390/genes16070840","DOIUrl":"10.3390/genes16070840","url":null,"abstract":"<p><strong>Background/objectives: </strong>Polycystic ovary syndrome (PCOS) is a multifactorial disorder influenced by both environmental and genetic factors. The aim of this study was to evaluate associations between selected polymorphisms (<i>CYP19</i>, <i>INSR</i>, <i>FTO</i>, <i>MC4R</i>) and the clinical manifestations of PCOS in a Polish female population.</p><p><strong>Methods: </strong>A total of 50 women (25 with PCOS and 25 healthy controls) were included. Genetic variants were identified using Polymerase Chain Reaction (PCR)-based methods. The frequencies of genotypes and alleles were compared between groups. Clinical symptoms such as irregular menstruation, hirsutism, acne, androgenetic alopecia, and overweight were assessed in relation to genotype.</p><p><strong>Results: </strong>No significant differences were found in genotype distributions for <i>CYP19</i>, <i>FTO</i>, <i>INSR</i>, or <i>MC4R</i> between PCOS and control groups. The <i>MC4R</i> polymorphisms showed deviations from Hardy-Weinberg equilibrium, possibly reflecting population-specific effects.</p><p><strong>Conclusions: </strong>Although most analyzed variants were not directly associated with PCOS in this cohort, the observed link between <i>INSR</i> rs1799817 and acne suggests a role in androgen-related symptoms. These findings contribute new insights to the genetic background of PCOS in Polish women and support the need for further studies combining genetic and phenotypic data in diverse populations.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729765","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}
GenesPub Date : 2025-07-18DOI: 10.3390/genes16070837
Do-Yeon Kim, Woo-Sung Choi, Ju-Hee Park, Seoghyun Kim, Jinyoung Park, Woohyun Song, Heejung Yang, Han-Heom Na, Keun-Cheol Kim
{"title":"Rainbow Trout (<i>Oncorhynchus mykiss</i>) Spleen-Derived Bioactive Compounds Suppress Pro-Inflammatory Gene Networks via NF-κB Pathway Modulation.","authors":"Do-Yeon Kim, Woo-Sung Choi, Ju-Hee Park, Seoghyun Kim, Jinyoung Park, Woohyun Song, Heejung Yang, Han-Heom Na, Keun-Cheol Kim","doi":"10.3390/genes16070837","DOIUrl":"10.3390/genes16070837","url":null,"abstract":"<p><p><b>Background</b>: Natural products are key sources of anti-inflammatory agents, yet the potential of fish visceral extracts remains largely unexplored. This study evaluated the anti-inflammatory activity of a spleen extract from rainbow trout (<i>Oncorhynchus mykiss</i>). <b>Methods</b>: A crude spleen extract and its four solvent fractions were tested in LPS-stimulated RAW264.7 macrophages. Nitric oxide production and expression of iNOS, COX-2, and cytokines were assessed by qRT-PCR and Western blotting. The most active fraction, OSB (n-butanol layer), was further analyzed for its effects on NF-κB signaling, macrophage polarization, and ROS generation. <b>Results</b>: The crude spleen extract significantly reduced NO production and downregulated iNOS and COX-2 expression at both the transcriptional and translational levels. Among the four fractions, the OSB fraction exhibited the most potent and consistent anti-inflammatory effects. OSB markedly suppressed LPS-induced expression of iNOS, COX-2, and pro-inflammatory cytokines, while enhancing anti-inflammatory cytokines. Mechanistic analyses demonstrated that OSB inhibited NF-κB activation by preventing the nuclear translocation of the p65 subunit. Additionally, OSB attenuated LPS-induced ROS production and reduced the expression of M1 macrophage markers, indicating inhibition of M1 polarization. <b>Conclusions</b>: The OSB fraction from rainbow trout spleen exhibits potent anti-inflammatory activity by modulating the NF-κB pathway and suppressing M1 macrophage polarization, suggesting its potential as a natural therapeutic agent.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12294267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729827","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}