Molecular Biotechnology最新文献_第2页

Molecular Characterization and Investigating the Potential of Georgenia Satyanarayanai as an Effective Agent in Pesticide Biodegradation Pathways. gegenia Satyanarayanai在农药生物降解途径中的分子特性及潜力研究。

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-03 DOI: 10.1007/s12033-025-01463-z

Muhammad Naveed, Maida Salah Ud Din, Tariq Aziz, Hafiz Muzzammel Rehman, Rida Naveed, Nimra Hanif, Muhammad Waseem, Sumaira Naz, Abdullah F Alasmari, Metab Alharbi, Thamer H Albekairi

{"title":"Molecular Characterization and Investigating the Potential of Georgenia Satyanarayanai as an Effective Agent in Pesticide Biodegradation Pathways.","authors":"Muhammad Naveed, Maida Salah Ud Din, Tariq Aziz, Hafiz Muzzammel Rehman, Rida Naveed, Nimra Hanif, Muhammad Waseem, Sumaira Naz, Abdullah F Alasmari, Metab Alharbi, Thamer H Albekairi","doi":"10.1007/s12033-025-01463-z","DOIUrl":"10.1007/s12033-025-01463-z","url":null,"abstract":"The persistent nature and toxic effects of pesticides are commonly employed in agriculture to increase crop yields and fight pests, which poses a serious risk to the environment. These chemical compounds, designed to target specific pests, often accumulate in soil, water, and air leading to long-term ecological imbalances and adverse effects on biodiversity. Their harmful impacts extend beyond target organisms affecting nontarget species including humans through bioaccumulation and biomagnification along the food chain. This study highlights the urgent necessity for effective bioremediation strategies to mitigate the deleterious effects of pesticide contamination. Focusing on the bacterial strain Georgenia satyanarayanai, the study aims to elucidate its enzymatic capability particularly the role of oxidase in degrading pesticides. In this work G. satyanarayanai isolated and characterized through 16S rRNA by a combination of in silico studies including analysis of the oxidase protein sequence and molecular docking simulations with pesticide derivatives, the research unveils the potential of G. satyanarayanai as a potent bioremediation agent. Docking scores of - 8.4 kcal/mol underscore the efficacy of these interactions and the protein model is 90.9% accurate and validation checked through ERRAT showcasing the bacterium's ability to combat pesticide pollution effectively. By providing a comprehensive background on pollutant accumulation and the significance of biodegradation, the study advocates for the adoption of eco-friendly approaches to tackle environmental contamination with G. satyanarayanai emerging as a promising candidate in this endeavour.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1769-1784"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144560549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Investigating the Efficacy of the CRISPR/Cas9 Gene-Editing System for Targeting the HBB FSC 36-37 (-T) Mutation Locus in Hematopoietic Stem Cells. 研究CRISPR/Cas9基因编辑系统靶向造血干细胞HBB FSC 36-37 (t)突变位点的效果

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-17 DOI: 10.1007/s12033-025-01465-x

Nasim Mayeli Fereydani, Hamid Galehdari, Elham Hoveizi, Arash Alghasi, Monireh Ajami, Behnaz Andashti, Alireza Malayeri

{"title":"Investigating the Efficacy of the CRISPR/Cas9 Gene-Editing System for Targeting the HBB FSC 36-37 (-T) Mutation Locus in Hematopoietic Stem Cells.","authors":"Nasim Mayeli Fereydani, Hamid Galehdari, Elham Hoveizi, Arash Alghasi, Monireh Ajami, Behnaz Andashti, Alireza Malayeri","doi":"10.1007/s12033-025-01465-x","DOIUrl":"10.1007/s12033-025-01465-x","url":null,"abstract":"The emergence of genome editing using the CRISPR/Cas9 system has opened up new possibilities and significantly improved the potential for long-term gene therapy of beta-thalassemia. In Iran, FSC 36/37 (-T) is one of the most common mutations among affected individuals, with the highest frequency in the West region (20.8%) and the South-West region (14%). In the context of a proof-of-concept investigation, we present a comprehensive design and assess the efficacy of a CRISPR construct specifically engineered to employ homology-directed repair for targeting the FSC 36/37 (-T) mutation in the HBB gene. The selected sgRNAs were designed and cloned into an optimized CRISPR plasmid. The guide RNAs were transferred to HEK293 cells. T7EI analysis and a non-denaturing PAGE system were employed to assess the effectiveness of the guide RNAs. Hematopoietic stem cells were isolated using the MACS system, and transfection was performed with the Lonza Nucleofector device. The edited cells were monitored using TaqMan-qPCR and RFLP-PCR techniques. Furthermore, the Cas9 enzyme's off-target cleavage sites were meticulously examined to ensure the specificity of the editing process. This research revealed successful genome editing in 30% of the clones analyzed in HEK293 cells and 23.91% of the examined clones in HSCs. Our findings demonstrate the potential of CRISPR/Cas9-mediated genome editing as a promising strategy for addressing genetic mutations associated with thalassemia and other monogenic diseases.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1851-1866"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144659701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development and Validation of Real-Time Allele-Specific PCR-Based Genotyping of the rs1042713 Variant in the ADRB2 Gene and Its Correlation with Salbutamol Response. 基于实时等位基因特异性pcr的ADRB2基因rs1042713变异基因分型的建立与验证及其与沙丁胺醇反应的相关性

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-29 DOI: 10.1007/s12033-025-01483-9

Dilla Jose, N S Vincent

{"title":"Development and Validation of Real-Time Allele-Specific PCR-Based Genotyping of the rs1042713 Variant in the ADRB2 Gene and Its Correlation with Salbutamol Response.","authors":"Dilla Jose, N S Vincent","doi":"10.1007/s12033-025-01483-9","DOIUrl":"10.1007/s12033-025-01483-9","url":null,"abstract":"Asthma is a prevalent chronic respiratory disease influenced by genetic and environmental factors. The beta-2 adrenergic receptor (ADRB2) gene, located on chromosome 5q31-q32, plays a crucial role in bronchodilation by regulating airway smooth muscle relaxation through cyclic adenosine monophosphate (cAMP)-mediated signaling. Genetic variations in ADRB2, particularly + 46A > G (Arg16Gly, rs1042713) and + 79C > G (Gln27Glu, rs1042714), have been associated with altered receptor function, potentially impacting bronchodilator response to β2adrenergic receptor agonists such as salbutamol. Studies suggest that individuals with specific ADRB2 polymorphisms may exhibit variable drug efficacy, influencing asthma treatment outcomes. This study aims to investigate the association between ADRB2 polymorphism (Arg16Gly, rs1042713) and bronchodilator response, assessing their role in inter-individual variability in salbutamol efficacy. Allele-specific PCR (AS-PCR) employed to genotype these polymorphisms help in distinguishing homozygous and heterozygous variants. The findings could contribute to personalized asthma management, optimizing pharmacogenetic-based treatment strategies for improved therapeutic outcomes in a cost effective setting. Understanding the genetic basis of β2-AR variability may facilitate tailored asthma interventions, reducing adverse drug reactions and enhancing patient care.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1979-1986"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144743165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Advances in Tissue Culture-Free Genetic Engineering and Genome Editing of Peanut. 花生无组织培养基因工程与基因组编辑研究进展。

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-17 DOI: 10.1007/s12033-025-01476-8

Tariq Alam

引用次数: 0

Different Distribution of Carotenoid Content in Periderm-Phloem-Xylem of Red Carrot Taproots. 红胡萝卜主根周皮-韧皮部-木质部类胡萝卜素含量的不同分布。

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-27 DOI: 10.1007/s12033-025-01487-5

Xue-Feng Peng, Ya-Hui Wang, Rong-Rong Zhang, Zi-Han Zhao, Ai-Sheng Xiong

{"title":"Different Distribution of Carotenoid Content in Periderm-Phloem-Xylem of Red Carrot Taproots.","authors":"Xue-Feng Peng, Ya-Hui Wang, Rong-Rong Zhang, Zi-Han Zhao, Ai-Sheng Xiong","doi":"10.1007/s12033-025-01487-5","DOIUrl":"10.1007/s12033-025-01487-5","url":null,"abstract":"The color of carrot taproots is mainly determined by the types and contents of carotenoids and anthocyanins. Consistency in taproot color from the outside to the inside is an important indicator of carrot quality. However, most carrot cultivars exhibit inconsistency in taproot color across these tissues. This difference is primarily due to variations in carotenoid content and types in non-purple carrot, though the underlying mechanism remains unclear. In this research, four red carrot cultivars 'Benhongjinshi' (BHJS), 'Dayumeirenzhi' (DY), 'Betafruit' (BT), and 'Meiguihong' (MGH) were analyzed for carotenoid content using high-performance liquid chromatography. The expression levels of genes involved in carotenoid biosynthesis were also examined. The results showed that the total carotenoid content varied among the tissues: in the periderm, 'BHJS' had 0.4244 mg/g, 'DY' 0.4955 mg/g, 'BT' 0.5229 mg/g, and 'MGH' 0.5925 mg/g; in the phloem, 'BHJS' had 0.5757 mg/g, 'DY' 0.6234 mg/g, 'BT' 0.2744 mg/g, and 'MGH' 0.3948 mg/g; in the xylem, 'BHJS' had 0.2917 mg/g, 'DY' 0.0807 mg/g, BT 0.1748 mg/g, and 'MGH' 0.1073 mg/g. The total carotenoid content was lowest in the xylem across all four red carrot cultivars. The expression levels of genes DcLCYB1, DcLCYB2, and DcCCD4, which regulate carotenoid metabolism, differed in the periderm, phloem, and xylem of carrot taproots. These differences in carotenoid type and content across the periderm, phloem, and xylem contribute to the inconsistent color of red carrot taproots from outside to inside. This phenomenon may result from the differential expression of structural genes regulating carotenoid metabolism in these tissues.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1929-1939"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sustainable Production of Biofuels from Lignocellulosic Biomass Using Microbial Applications: Status, Challenges and Prospects. 利用微生物应用从木质纤维素生物质可持续生产生物燃料：现状、挑战和前景。

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-11 DOI: 10.1007/s12033-025-01479-5

Ashish Kapoor, Amit Kumar Tiwari, S C Tripathi, Mohammed Asiri, Dan Bahadur Pal, Manikant Tripathi

{"title":"Sustainable Production of Biofuels from Lignocellulosic Biomass Using Microbial Applications: Status, Challenges and Prospects.","authors":"Ashish Kapoor, Amit Kumar Tiwari, S C Tripathi, Mohammed Asiri, Dan Bahadur Pal, Manikant Tripathi","doi":"10.1007/s12033-025-01479-5","DOIUrl":"10.1007/s12033-025-01479-5","url":null,"abstract":"The global pursuit of sustainable and renewable energy sources has intensified interest in biofuel production from lignocellulosic biomass. There are challenges for achieving sustainable biofuel production and utilization of lignocelluloses through microbial applications. The feedstock selection, pretreatment techniques, enzymatic hydrolysis, fermentation, and purification are important considerations from a sustainability perspective. Non-edible biomass sources, including agricultural and forest residues, are highlighted for their potential to reduce competition with food crops and minimize environmental impacts. Various pretreatment methods are explored for their efficacy in breaking down the complex lignocellulosic structure and enhancing enzymatic accessibility. Advances in enzyme technologies, metabolic engineering, and microbial biotechnology have significantly improved the efficiency of enzymatic hydrolysis and fermentation processes, resulting in increased sugar release and higher biofuel yields. The review emphasizes sustainability aspects, including energy security, reduced greenhouse gas emissions, and the utilization of renewable resources, in the context of microbial applications. However, overcoming technical and economic challenges, scaling up production, and ensuring commercial viability require further research and development. Continual advancements in microbial processes, coupled with innovation and comprehensive sustainability assessments, hold substantial promise for the sustainable production of biofuels from lignocellulosic biomass, contributing to a greener and more resilient energy future.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1649-1666"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

DAPK3-Ablation Regulates the AMPK/mTOR-GPX4 Signaling Pathway to Affect Biological Functions of Staphylococcus aureus-Treated Bone Marrow Mesenchymal Stem Cells and Potentially Ameliorate Osteomyelitis. dapk3消融调节AMPK/mTOR-GPX4信号通路影响金黄色葡萄球菌处理的骨髓间充质干细胞生物学功能并可能改善骨髓炎

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-02 DOI: 10.1007/s12033-025-01467-9

Nannan Kou, Runyao Zhang, Feifei Liu, Hongliang Zhou, Zhihua Wang, Lirong Ren

{"title":"DAPK3-Ablation Regulates the AMPK/mTOR-GPX4 Signaling Pathway to Affect Biological Functions of Staphylococcus aureus-Treated Bone Marrow Mesenchymal Stem Cells and Potentially Ameliorate Osteomyelitis.","authors":"Nannan Kou, Runyao Zhang, Feifei Liu, Hongliang Zhou, Zhihua Wang, Lirong Ren","doi":"10.1007/s12033-025-01467-9","DOIUrl":"10.1007/s12033-025-01467-9","url":null,"abstract":"Staphylococcus aureus (SA)-caused osteomyelitis (OM) is inflammation-related refractory disease that seriously degrades the life quality of human beings. Unfortunately, up until now, the molecular mechanisms of OM progression have not been fully delineated, which hampered the development of treatment strategies for this disease. The present study aimed to resolve this issue and a novel DAPK3/AMPK/mTOR-GPX4 signal pathway was significantly linked to the development of OM. Specifically, the rat bone marrow mesenchymal stem cells (rBMSCs) were treated with SA to establish the OM models. SA treatment triggered cell autophagy and ferroptosis and suppressed osteogenic differentiation of rBMSCs. Mechanistically, as it was revealed by our RNA sequencing analysis and cellular experiments, SA significantly increased the expression levels of DAPK3 in a dose-dependent manner, and silencing DAPK3 reversed SA-induced detrimental effects in rBMSCs. Of note, our subsequent experiments confirmed that DAPK3-ablation reduced the phosphorylation of AMPK and ULK1, while increasing the phosphorylation of mTOR and the expression of GPX4. The improvement effects of DAPK3 deficiency on cell autophagy, ferroptosis, and osteogenic differentiation in SA-treated rBMSCs were abrogated by co-treating cells with AMPK activator. In summary, this research verified that silencing of DAPK3 regulated the AMPK/mTOR-GPX4 signal pathway to modulate cell autophagy, ferroptosis and osteogenic differentiation, ameliorating OM progression.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1756-1768"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Inhibition of GPR75 Alleviates Lipid Metabolism by Activating the AMPK-SIRT1 Signaling Pathway In Vitro and In Vivo. 抑制GPR75通过激活AMPK-SIRT1信号通路减轻脂质代谢在体外和体内的研究

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-29 DOI: 10.1007/s12033-025-01451-3

Junyu Wang, Guishun Sun, Shiwen Li, Xuan He, Rongzhuang Zou, Kunlin Li, Bian Wu

{"title":"Inhibition of GPR75 Alleviates Lipid Metabolism by Activating the AMPK-SIRT1 Signaling Pathway In Vitro and In Vivo.","authors":"Junyu Wang, Guishun Sun, Shiwen Li, Xuan He, Rongzhuang Zou, Kunlin Li, Bian Wu","doi":"10.1007/s12033-025-01451-3","DOIUrl":"10.1007/s12033-025-01451-3","url":null,"abstract":"The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is primarily driven by excessive lipid accumulation and metabolic dysregulation, necessitating a comprehensive investigation into the underlying mechanisms. This study employed an in vitro model, wherein Huh7 cells were induced with a palmitic acid/oleic acid mixture, and an in vivo model involving the provision of a high-fat diet to SD rats for six weeks. Employing techniques such as oil red O staining, immunofluorescence, and Western blotting, we examined lipid synthesis, metabolism, and the associated molecular pathways. The findings indicate that GPR75 overexpression markedly enhances lipid synthesis and impairs lipid metabolism. Conversely, GPR75 knockdown significantly diminished the fluorescence intensity of lipid synthesis factors FASN and SREBP1, concurrently elevating the expression of AMPK and SIRT1 proteins, which culminated in reduced lipid synthesis and improved lipid metabolism. Furthermore, inhibiting the AMPK-SIRT1 pathway following GPR75 knockdown led to a significant reversal of these lipid metabolic alterations. Overall, our study elucidates that GPR75 inhibition may diminish lipid accumulation and enhance lipid metabolism both in vitro and in vivo, primarily through the activation of the AMPK-SIRT1 signaling pathway.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1965-1978"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13053379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732382","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

Characterization of the YCjN ABC Transporter in Escherichia coli: Role in Maltose and Ethidium Bromide Transport. 大肠杆菌中YCjN ABC转运蛋白的表征：在麦芽糖和溴化乙啶转运中的作用。

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-07-28 DOI: 10.1007/s12033-025-01475-9

Yanhong Wang, Beibei Xu, Amro Abdelazez, Heba Abdel-Motaal, Qingpeng Liu, Lu Han, Ming Yang, Wenzhao Wang, Mohamed A Abd El-Aziz, Garsa Alshehry, Eman Algarni, Huda Aljumayi

{"title":"Characterization of the YCjN ABC Transporter in Escherichia coli: Role in Maltose and Ethidium Bromide Transport.","authors":"Yanhong Wang, Beibei Xu, Amro Abdelazez, Heba Abdel-Motaal, Qingpeng Liu, Lu Han, Ming Yang, Wenzhao Wang, Mohamed A Abd El-Aziz, Garsa Alshehry, Eman Algarni, Huda Aljumayi","doi":"10.1007/s12033-025-01475-9","DOIUrl":"10.1007/s12033-025-01475-9","url":null,"abstract":"This study investigated the functional role of the ycjN gene in Escherichia coli, hypothesizing that its encoded protein, YcjN, functions as a carbohydrate transporter. Bioinformatics analysis confirmed YcjN as a solute-binding protein (SBP). The construction of a ΔycjN deletion strain revealed that ycjN is not essential for bacterial viability. Ethidium bromide (EB) accumulation and efflux assays demonstrated that both the overexpression strain (E. coli/pET28a-ycjN) and wild-type E. coli exhibited significantly higher intracellular EB fluorescence as compared to null-loaded and defective strains, indicating enhanced substrate uptake capacity. No significant differences in EB efflux rates were observed among the strains, confirming that ycjN encodes an inwardly directed uptake pump. Further experiments using ATPase inhibitors ortho-vanadate and CCCP revealed that the YcjNOPV transporter actively transports substrates via ATP hydrolysis, classifying it as an ATP-binding cassette (ABC) family transporter. Substrate specificity analysis using high-performance liquid chromatography (HPLC) and reducing sugar detection confirmed that YcjNOPV primarily transports maltose while also exhibiting glucoside transport activity. These findings establish the functional role of the ycjN gene in carbohydrate transport and provide a foundation for engineering applications involving ABC transporters.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1940-1964"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13053599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732324","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

Transforming Hemophilia Management: Lessons from Gene Therapy Clinical Trials. 转变血友病管理：来自基因治疗临床试验的经验教训。

IF 2.5 4区生物学

Molecular Biotechnology Pub Date : 2026-04-01 Epub Date: 2025-06-30 DOI: 10.1007/s12033-025-01464-y

Md Sadique Hussain, Mudasir Maqbool, Mohammed M Arab, Amita Joshi Rana, Sumel Ashique, Yumna Khan, Vikas Jakhmola, Gaurav Gupta

{"title":"Transforming Hemophilia Management: Lessons from Gene Therapy Clinical Trials.","authors":"Md Sadique Hussain, Mudasir Maqbool, Mohammed M Arab, Amita Joshi Rana, Sumel Ashique, Yumna Khan, Vikas Jakhmola, Gaurav Gupta","doi":"10.1007/s12033-025-01464-y","DOIUrl":"10.1007/s12033-025-01464-y","url":null,"abstract":"Gene therapy signifies a transformative revolution in hemophilia care, providing the possibility for sustained endogenous synthesis of coagulation factors and limiting the need for external factor supplementation. Preliminary experiments in hemophilia B via adeno-associated viral (AAV) vectors encountered constraints owing to immunological reactions and temporary translation. Progress in vector technology, particularly via self-complementary AAV innovation and codon-optimized mini-factor IX (FIX) concepts, has markedly improved transduction performance and prolonged FIX activity. Initial investigations have shown encouraging outcomes, with certain individuals sustaining consistent FIX expressions for more than 8 years; hence, decreasing yearly bleeding incidents and requiring preventive therapy. The development of gene therapy for hemophilia A has encountered substantial obstacles owing to the enormous size of the factor VIII (FVIII) gene. The recent experiments using AAV serotypes 5 (AAV5) vectors that encode B-domain-deleted FVIII constructs have shown sustained levels along with substantial decreases in hemorrhage incidents. Research has shown prolonged FVIII expression, with some individuals attaining almost normal coagulation efficiency. Phase III studies have validated long-term effectiveness and safety, with transient transaminase elevations being the most common adverse event. Notwithstanding these advancements, difficulties persist, including immunological reactions to vector capsids, hepatotoxicity, and unpredictability in translation levels. Innovative approaches including lentiviral vectors, gene-editing technologies, and novel customized connection strategies demonstrate possibilities for enhancing the effectiveness of gene therapy. Continuous clinical research and improvement in delivery systems will be crucial in substantiating gene therapy as a definitive approach for hemophilia.","PeriodicalId":18865,"journal":{"name":"Molecular Biotechnology","volume":" ","pages":"1597-1608"},"PeriodicalIF":2.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144528972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0