Journal of Genetic Engineering and Biotechnology最新文献

{"title":"Investigating the role of oncogenic FAM83A as a prognostic biomarker in lung adenocarcinoma: Insights from smoker and non-smoker cohorts","authors":"Prithvi Singh ,&nbsp;Aanchal Rathi ,&nbsp;Mohammad Masood ,&nbsp;Md.Imtaiyaz Hassan ,&nbsp;Mohammad Mahfuzul Haque ,&nbsp;Ravins Dohare ,&nbsp;Anas Shamsi","doi":"10.1016/j.jgeb.2025.100581","DOIUrl":"10.1016/j.jgeb.2025.100581","url":null,"abstract":"<div><div>Lung adenocarcinoma (LUAD) in smokers and non-smokers presents distinct clinical characteristics, including differences in genetics, treatment response, and prognosis. To explore these differences, we conducted a <em>meta</em>-analysis using publicly accessible LUAD datasets, identifying <em>meta</em>-differentially expressed genes (DEGs) in smokers and non-smokers. A total of <span><math><mrow><mn>29</mn><mspace></mspace></mrow></math></span> <em>meta</em>-DEGs were discovered, with seven (<em>CLDN2</em>, <em>CLDN18</em>, <em>CYP4B1</em>, <em>CYP4X1</em>, <em>FAM83A</em>, <em>HLF</em>, and <em>PLA2G1B</em>) demonstrating prognostic significance in the TCGA-LUAD cohort. Among these, <em>FAM83A</em> was particularly noteworthy for its amplification in LUAD samples and its negative correlation with immune cell infiltration. Functional enrichment analysis revealed key pathways, such as cytochrome P450 metabolism and cell–cell adhesion, which may be critical in LUAD progression. Our findings highlight <em>FAM83A</em> as a potential prognostic biomarker with significant implications for treatment strategies, especially concerning immune modulation. This study offers a more comprehensive insight into the molecular differences in LUAD in smokers and non-smokers and lays the groundwork for targeted therapies tailored to these subgroups.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100581"},"PeriodicalIF":2.8,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265931","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":"Assessment of peripheral gene expression signatures as predictive biomarkers for hepatocellular carcinoma following DAA treatment","authors":"Rehab I. Moustafa ,&nbsp;Sally Farouk ,&nbsp;Noha G. Bader El Din ,&nbsp;Hend I. Shousha ,&nbsp;Ahmed Khairy ,&nbsp;Yasser K. Elesnawy ,&nbsp;Heba Shawky ,&nbsp;Ahmed M. Gabr ,&nbsp;Ashraf O. Abdelaziz ,&nbsp;Amr Abdelaal ,&nbsp;Hassan Elsayed","doi":"10.1016/j.jgeb.2025.100583","DOIUrl":"10.1016/j.jgeb.2025.100583","url":null,"abstract":"<div><div>Hepatocellular carcinoma (HCC) is a major cause of cancer mortality worldwide, with viral hepatitis accounting for about 80 % of incidences. In Egypt, HCV contributes to 63 % of HCC cases. Although DAAs have achieved high SVR rates, they do not eliminate the risk of HCV-related HCC. Persistent epigenetic changes induced by HCV-infection may establish an “oncogenic memory” that promotes HCC even after viral clearance. Peripheral blood mononuclear cells (PBMCs) offer a non-invasive platform for detecting systemic immune and oncogenic signatures, aiding HCC risk assessment. This study aimed to characterize the expression of an epigenetically induced gene panel, comprising JUNB, WNT10A, SPHK1, EDN1, and KLF4 in hepatic tissues and PBMCs from Egyptian HCC patients with HCV genotype 4 who achieved SVR. In silico analyses revealed strong epigenetic associations of these genes, including links to histone-modifying enzymes, protein–protein interaction networks, and enrichment in cancer-related pathways. Gene expression was analyzed using qRT-PCR in SVR individuals, chronic HCV patients, and healthy controls, with diagnostic performance evaluated using multivariate regression and ROC curve analyses. Our results showed significant upregulation of WNT10A, SPHK1, JUNB, and EDN1 and downregulation of KLF4 in PBMCs, particularly post-SVR. PBMC expression showed high diagnostic accuracy (AUROC &gt; 0.92 for SPHK1, WNT10A, JUNB). In conclusion, combining PBMC gene expression profiling with in-silico analyses highlights JUNB, WNT10A, SPHK1, EDN1, and KLF4 as promising non-invasive biomarker panel for HCC risk in DAA-SVR patients, reflecting their integration into epigenetic and oncogenic networks and supporting their potential for risk stratification and therapeutic targeting.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100583"},"PeriodicalIF":2.8,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265933","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":"Microencapsulation of Annona crassiflora extract using maltodextrin: Material design and evaluation of antioxidant, antiglycation, and antiaging properties in vitro and in silico","authors":"Kamille Daleck Spera ,&nbsp;Pedro Henrique Gorni ,&nbsp;João Luiz Bronzel-Junior ,&nbsp;Filipe Oliveira Granero ,&nbsp;Célia Cristina Malaguti Figueiredo ,&nbsp;Hugo Henrique Santos ,&nbsp;Luciana Pereira Silva ,&nbsp;Patrizia Perego ,&nbsp;Paulo Eduardo Amaral Debiagi ,&nbsp;Nilson Nicolau-Junior ,&nbsp;Regildo Márcio Gonçalves da Silva","doi":"10.1016/j.jgeb.2025.100579","DOIUrl":"10.1016/j.jgeb.2025.100579","url":null,"abstract":"<div><div><em>Annona crassiflora</em>, a native Brazilian Cerrado fruit tree, is rich in bioactive compounds, particularly phenolic compounds and flavonoids, known for their antioxidant capabilities. The research addresses the limitations of seasonal fruit production by exploring the bioactive potential of leaves, aiming for sustainable harvesting practices. In view of this, the study aimed to investigate the antioxidant, antiglycation, and antiaging properties of <em>A. crassiflora</em> leaf extract (AcHE), exploring its potential for microencapsulation using maltodextrin. The methodology included the preparation of a hydroethanolic extract (AcHE) from <em>A. crassiflora</em> leaves, phytochemical analysis to determine total polyphenol, flavonoid, and tannin content using spectrophotometric techniques and GC–MS analysis. Antioxidant activity was assessed through DPPH radical scavenging, ferric ion reducing power (FRAP), inhibition of lipid peroxidation (TBARS assay), nitric oxide radical scavenging activity, and oxidative hemolysis tests. Antiglycation activity was evaluated by quantifying free amino groups using the OPA method in a glycation reaction mixture of bovine serum albumin (BSA) and ribose. The study showed the efficacy of AcHE in preventing oxidative stress, glycation, and premature aging, which are linked to chronic diseases. It also demonstrated the optimization of the microencapsulation process with maltodextrin, showing enhanced stability, bioavailability, and efficacy of the bioactive compounds present in <em>A. crassiflora</em> leaves for potential applications in the food, pharmaceutical, and cosmetic industries.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100579"},"PeriodicalIF":2.8,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265932","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":"Genome-wide characterization and seasonal modulation of Hsp60 expression in juvenile Hilsa Shad across distinct upstream habitats","authors":"Md.Toasin Hossain Aunkor ,&nbsp;Afroza Pervin ,&nbsp;Md.Nazmul Hasan ,&nbsp;Zobada Kanak Khan ,&nbsp;Rakibul Islam Akanda ,&nbsp;Mohammad Mehedi Hasan Khan ,&nbsp;Kazi Mohammad Ali Zinnah ,&nbsp;Md.Faruque Miah","doi":"10.1016/j.jgeb.2025.100586","DOIUrl":"10.1016/j.jgeb.2025.100586","url":null,"abstract":"<div><div>Heat shock protein 60 acts as a molecular chaperone that assists in proper protein folding under stress conditions. However, its genomic features and temperature-responsive behavior have not yet been studied in Hilsa Shad. In this study, we employed both computational and experimental approaches to investigate the genomic, proteomic, and expression dynamics of Hsp60 in this ecologically and economically important anadromous species. We identified three distinct gene copies which showed high sequence similarity compared to the Hsp60 gene of the well-studied three-spined stickleback. The physico-chemical properties, gene structure, functional domains and motifs, and sequence alignment were analyzed to characterize the paralogs. The phylogenetic analysis and structural modeling further confirmed their close evolutionary relationship and high structural similarity. However, Hilsa juvenile experience winter in the Meghna river in February and autumn in the Surma river in September due to their upstream migration. Notably, all three Hsp60 gene paralogs were significantly upregulated in the gill and liver during the warmer autumn season. While the level of relative expression was moderate in muscle and modest in kidney. This finding suggests a strong role for these genes in the thermal stress response of Hilsa Shad in the Surma river. In addition to, it demonstrates the role of Hsp60 in maintaining homeostasis in juvenile Hilsa Shad under fluctuating environmental conditions. It also aligns with the established role of heat shock proteins in thermal biology, where Hsp60 facilitates cellular protection and adaptation of juvenile Hilsa Shad to changing thermal regimes.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100586"},"PeriodicalIF":2.8,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265928","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":"Comprehensive examination of demographic, psychological, cognitive, biochemical, and genetic profiles of methamphetamine addicts","authors":"Haider K. Hussain ,&nbsp;Yolanda Loarce Tejada ,&nbsp;Anna Barbaro","doi":"10.1016/j.jgeb.2025.100564","DOIUrl":"10.1016/j.jgeb.2025.100564","url":null,"abstract":"<div><div>Methamphetamine (MA) addiction is a serious public health concern with wide-ranging neurobiological and behavioral effects. This study aimed to assess the demographic, psychological, cognitive, biochemical, and genetic profiles of individuals with methamphetamine dependence, focusing on neurotransmitter levels and the expression of addiction- and aggression-related genes. Sixty male methamphetamine users and thirty age-matched healthy controls were recruited. Participants underwent psychological assessments, cognitive testing, and biochemical evaluation of serotonin and dopamine levels using ELISA. Gene expression of SLC6A4 and COMT was quantified via real-time PCR. Significant alterations were observed in the methamphetamine group compared to controls, including reduced serotonin (17.1 ± 3.1 vs. 20.5 ± 3.2 ng/mL; p = 0.002) and dopamine levels (46.3 ± 7.2 vs. 52.4 ± 6.5 ng/mL; p = 0.015), as well as down-regulation of SLC6A4 (0.64-fold vs. 1.00; p = 0.001) and up-regulation of COMT (1.47-fold vs. 1.00; p = 0.028). These biochemical and genetic changes were correlated with increased aggression and cognitive impairments. The findings underscore the impact of prolonged MA use on neurochemical balance and gene expression, contributing to the development of aggressive behaviors and addictive patterns. Tailored treatment strategies that integrate genetic and psychological profiling, along with longitudinal monitoring, are essential to address the multifactorial nature of methamphetamine addiction and improve clinical outcomes.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100564"},"PeriodicalIF":2.8,"publicationDate":"2025-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145265930","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":"Genetic differentiation of Pisang Awak subvarieties and genetic variation among ‘Mali-Ong’ plantlets in Thailand using RAPD and SRAP markers","authors":"Thanita Boonsrangsom ,&nbsp;Kawee Sujipuli ,&nbsp;Duangporn Premjet","doi":"10.1016/j.jgeb.2025.100577","DOIUrl":"10.1016/j.jgeb.2025.100577","url":null,"abstract":"<div><div>Banana (<em>Musa</em> spp.) is a globally important fruit crop, with most cultivated varieties originating from hybridizations between <em>M. acuminata</em> (A genome) and <em>M. balbisiana</em> (B genome). Triploid ABB hybrids, carrying two B-genome and one A-genome sets, are valued for their stress tolerance and adaptability. In Thailand, ‘Kluai Namwa’ (Pisang Awak) is the most widely cultivated ABB cultivar, but it shows considerable phenotypic variation across subvarieties. Because morphological classification is often unreliable, molecular tools are needed to assess genetic identity and diversity. A total of 28 Thai banana genotypes, representing the AA, BB, and ABB genome groups, were analyzed using RAPD and SRAP markers. RAPD produced 109 bands with 93.6 % polymorphism, while SRAP generated 278 bands with 92.5 % polymorphism, indicating substantial genetic variation. The mean polymorphic information content was 0.22 for RAPD and 0.24 for SRAP, confirming the discriminatory power of both marker systems. UPGMA clustering separated the genotypes into two major clusters corresponding to A- and B-genome contributions, a structure further supported by PCoA. Distinctive bands, such as RAPD primer S7 (2.50 kb) and SRAP combination Me6/Em8 (0.80 kb), specifically identified ‘Kluai Hak Muk’ cooking bananas, demonstrating the potential of these markers for cultivar authentication. The genetic stability of 16 ‘Kluai Namwa Mali-Ong’ plantlets from different locations was also evaluated. Results revealed high clonal uniformity (mean similarity = 0.858) with only minor variation, likely reflecting localized cultivation practices. Overall, RAPD and SRAP markers proved effective for genome identification, diversity assessment, and clonal stability monitoring in Thai bananas. These tools will support banana breeding, germplasm conservation, and reliable authentication of high-value cultivars.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100577"},"PeriodicalIF":2.8,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227471","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":"Detection of FMR1 CGG Repeat Expansions Using Buccal Swab and Blood Samples of Children With Intelectual Disability in A Resource-Limited Country","authors":"Siti F. Aulia ,&nbsp;Mentari Amir ,&nbsp;Intan Razari ,&nbsp;Kinasih Prayuni ,&nbsp;Wan Nedra ,&nbsp;Ndaru A. Damayanti ,&nbsp;Nurmayani Irwandi ,&nbsp;Ahmad Utomo ,&nbsp;Vivienne J. Tan ,&nbsp;Samuel S. Chong ,&nbsp;Sultana M.H. Faradz","doi":"10.1016/j.jgeb.2025.100582","DOIUrl":"10.1016/j.jgeb.2025.100582","url":null,"abstract":"<div><div>Fragile X Syndrome (FXS), the most common inherited intellectual disability, is caused by CGG-repeat expansions in the <em>FMR1</em> gene. In resource-limited settings such as Indonesia, the absence of systematic screening programs complicates early detection. This study compared the performance of buccal swab and blood samples in detecting <em>FMR1</em> repeat expansions to facilitate non-invasive screening. A total of 164 male students with intellectual disabilities in Jakarta provided paired buccal swab and blood samples. Conventional PCR was used for initial screening, followed by Triplet-Primed PCR (TP-PCR) with Melt Curve Analysis (MCA) and sizing confirmation by fluorescent TP-PCR and capillary electrophoresis. Conventional PCR identified 159 normal alleles, three grey zones, and two full mutations, resulting in an FXS prevalence of 1.22 %. A perfect concordance was observed between buccal swab and blood samples (Cohen’s Kappa = 1.000). Additional TP-PCR MCA analysis on 80 selected samples revealed inconsistencies in buccal swab results, with 12 cases classified as indeterminate, suggesting potential DNA quantity and/or quality issues. These findings indicated that buccal swabs are a feasible, non-invasive sampling method to screen FXS via conventional PCR, though further optimization is required for TP-PCR MCA. This study represents the first FXS screening in Jakarta, emphasizing the importance of early detection and scalable genetic testing strategies, particularly in resource-limited settings.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100582"},"PeriodicalIF":2.8,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227470","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":"Identification of high-risk signatures and therapeutic targets through molecular characterization and immune profiling of TP53-mutant breast cancer","authors":"Peter Jerome Ishmael V. Paulino,&nbsp;Mohammad Tasyriq Che Omar","doi":"10.1016/j.jgeb.2025.100574","DOIUrl":"10.1016/j.jgeb.2025.100574","url":null,"abstract":"<div><h3>Background</h3><div>TP53 mutations are commonly observed in aggressive subtypes of breast cancer, influencing the tumor microenvironment (TME) and patient prognosis. In this study, we developed a prognostic gene-based risk model to stratify TP53-mutant breast cancer patients and explore potential therapeutic targets.</div></div><div><h3>Methods</h3><div>We performed comprehensive bioinformatics analyses using TCGA and METABRIC datasets to identify key prognostic genes in TP53-mutant breast cancer. Differential expression and Gene Set Enrichment Analysis (GSEA) revealed dysregulated pathways, while protein–protein interaction (PPI) networks highlighted functional hubs. Survival analysis, followed by univariate Cox regression, LASSO, and multivariate regression, led to the construction of a robust gene-based risk model. Immune landscape profiling was conducted to evaluate tumor microenvironment characteristics. Finally, drug sensitivity analysis and molecular docking were used to identify potential therapeutic agents targeting high-risk patients.</div></div><div><h3>Results</h3><div>TP53 mutations were present in ∼ 35 % of patients and associated with significant transcriptomic alterations. A total of 666 genes were consistently dysregulated, including 333 upregulated (such as <em>A2ML1, CA9, VGLL1, PSAT1</em>) and 333 downregulated (such as <em>AGR3, TFF1, ESR1, CPB1</em>) in TP53 mutated breast cancer patients. GSEA revealed that the cell cycle, DNA replication, and metabolic pathways in in TP53 mutated breast cancer patients. Protein–protein interaction (PPI) network analysis of these genes revealed tightly connected modules related to mitotic regulation and immune signaling, underscoring key functional hubs in TP53-mutant tumors. A four-gene prognostic model (<em>FGFR4, S100P, ADM, CTSC</em>) stratified TP53-mutant patients into high- and low-risk groups with distinct survival outcomes and immune profiles. High-risk patients exhibited a suppressed immune landscape, characterized by lower immune and stromal cell infiltration and higher tumor purity. Drug sensitivity analysis and molecular docking revealed several compounds, including Lapatinib, Docetaxel, and Trametinib, with strong binding affinities to key model genes. These drugs demonstrated potential efficacy in high-expression cells, suggesting their viability as targeted therapies.</div></div><div><h3>Conclusion</h3><div>Our findings underscore the prognostic value of the identified genes and the immunosuppressive TME in TP53-mutant breast cancer. The identification of drug candidates with strong binding affinities to key proteins provides promising avenues for targeted therapy in this high-risk patient population.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100574"},"PeriodicalIF":2.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227466","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":"Isolation and characterization of peroxidase from potato leaves Solanum tuberosum: Application in glucose diagnostic kit","authors":"Hassan M.M. Masoud ,&nbsp;Mohammed M. Abdel-Monsef ,&nbsp;Mohamed S. Helmy ,&nbsp;Sayed S. Esa ,&nbsp;Doaa A. Darwish","doi":"10.1016/j.jgeb.2025.100584","DOIUrl":"10.1016/j.jgeb.2025.100584","url":null,"abstract":"<div><div>Peroxidases play a pivotal role in many medical applications such as diagnostic kits and ELISA assays. This study reports the purification and biochemical characterization of peroxidase from potato leaves (PLPOD) and its application in the formulation of a glucose diagnostic kit. PLPOD was purified through CM-cellulose ion-exchange and Sephacryl S-300 gel filtration chromatography, achieving an 11.8-fold purification with 48 % recovery and a final specific activity of 705.7 U/mg. Native PAGE and activity staining confirmed the enzyme’s purity and homogeneity. PLPOD molecular weight was estimated from gel filtration column as 64 kDa, but on SDS gel, there were three PLPOD isoforms of approximated molecular weights ranging from ∼ 40–60 kDa. PLPOD exhibited optimal activity at pH 5.2, with Zn²⁺ and Ni²⁺ enhancing activity, while Ca²⁺ and Fe²⁺ inhibited it. Inhibitor analysis confirmed the heme-dependent nature of the enzyme. The <em>K_m</em> values for guaiacol and H₂O₂ were 0.067 mM and 40 mM, respectively, consistent with typical plant peroxidases. A glucose diagnostic kit developed using PLPOD showed strong concordance with a commercial glucose kit when tested on normal and diabetic serum samples demonstrating its clinical applicability. These findings suggest that PLPOD is a viable cost-effective for use in diagnostic assays and kits.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100584"},"PeriodicalIF":2.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227468","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":"NR5A1 gene variants in infertile Senegalese men: Discovery of a novel missense variant and genotype-phenotype correlation","authors":"Adji Dieynaba Diallo ,&nbsp;Arame Ndiaye ,&nbsp;Ndiaga Diop ,&nbsp;Fatou Diop Gueye ,&nbsp;Mame Venus Gueye ,&nbsp;Yacouba Dia ,&nbsp;Amath Thiam ,&nbsp;Abdoulaye Séga Diallo ,&nbsp;Rokhaya Ndiaye ,&nbsp;Oumar Faye ,&nbsp;Mama Sy","doi":"10.1016/j.jgeb.2025.100578","DOIUrl":"10.1016/j.jgeb.2025.100578","url":null,"abstract":"<div><div>The <em>NR5A1</em> gene, encoding Steroidogenic Factor 1 (SF-1), plays a critical role in sex differentiation and spermatogenesis. However, data on <em>NR5A1</em> variants in sub-Saharan African populations remain limited. This exploratory pilot study aimed to identify and characterize <em>NR5A1</em> variants in infertile Senegalese men and to assess genotype–phenotype correlations. We conducted a cross-sectional study in 23 infertile Senegalese men, and exons 2 –7 of <em>NR5A1</em> were sequenced using the Sanger method. Detected variants were analyzed with in silico prediction tools and filtered for rarity (minor allele frequency &lt; 1 %) using the gnomAD database. Genotype–phenotype associations were analyzed using Fisher’s exact test.</div><div>Eighty-three percent of patients harbored at least one <em>NR5A1</em> variant. A novel heterozygous missense variant, c.584C &gt; T (p.Ser195Phe), located in the hinge region of SF-1, was identified in three unrelated individuals presenting with micropenis, testicular hypotrophy, and azoospermia. Several previously described variants were also detected. Genotype–phenotype correlation analysis revealed significant associations between <em>NR5A1</em> variants and spermatogenic failure, the most common clinical feature (60.8 %). These findings demonstrate substantial genetic variability in <em>NR5A1</em> among Senegalese men with infertility, and identify a novel missense variant. Our study highlights the relevance of <em>NR5A1</em> in male infertility screening and emphasizes the importance of incorporating African populations into reproductive genetics research.</div></div>","PeriodicalId":53463,"journal":{"name":"Journal of Genetic Engineering and Biotechnology","volume":"23 4","pages":"Article 100578"},"PeriodicalIF":2.8,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227469","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}