Molecular Biology Reports最新文献

{"title":"Priming effect of photobiomodulation of mesenchymal stem cells on extracellular vesicles for regenerative medicine.","authors":"Maria Emília Mota, Márcia Martins Marques, Fábio Abreu Alves, Rebeca Boltes Cecatto, Suely Kunimi Kubo Ariga, Maria Stella Moreira","doi":"10.1007/s11033-025-10791-x","DOIUrl":"https://doi.org/10.1007/s11033-025-10791-x","url":null,"abstract":"<p><p>Extracellular vesicles (EVs) derived from mesenchymal stem cells (MSCs) (MSCs-derived EVs) have shown promising outcomes in repairing damaged tissues across various disease models. Combining MSCs-derived EVs with advanced technologies could further enhance their use as a viable cell-free therapy in medical applications. Photobiomodulation (PBM) has shown a synergistic effect with EVs in improving tissue regeneration. This pioneer review aimed to evaluate the entire scope available in the current literature on the PBM priming effect on MSCs-derived EVs. Two independent reviewers conducted a literature search in online databases PubMed/MEDLINE, Web of Science, Scopus, EMBASE and LIVIVO. The inclusion criteria were: (1) studies investigating PBM and MSCs-derived EVs and (2) all language and data. Of 213 found articles, 8 (eight) articles were selected for a complete reading. After the complete reading, 6 (six) articles were selected for data extraction. In general, the studies reported no deleterious effects of PBM on EVs. Furthermore, in vitro, PBM increased concentration of EVs, angiogenic factors, anti-apoptotic protein levels and cell survival. In vivo, PBM and EVs demonstrated positive effects in skin wound healing and pulp regeneration. These studies highlighted the promising potential of combining both therapies (PBM and MSCs-derived EVs) as an innovative strategy in regenerative medicine. However, significant challenges remain, including the need for standardization of EVs isolation and characterization methods, as well as the evaluation of laser irradiation parameters across diverse experimental conditions. Additionally, a deeper understanding of the underlying mechanisms of PBM effects on EVs is crucial to optimize this approach and fully harness its therapeutic potential.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"707"},"PeriodicalIF":2.6,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619088","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}

{"title":"Morpho-biochemical and molecular characterization of Bacillus subtilis and Priestia megaterium isolates from eastern Indian farmlands.","authors":"Sujaan Aehsas, Jyoti Prakash Sahoo, Neelanjana Choudhury, Shaikh Nausad Hossain, Anjali Lata Sahoo, Sunil Kumar Sunani","doi":"10.1007/s11033-025-10796-6","DOIUrl":"https://doi.org/10.1007/s11033-025-10796-6","url":null,"abstract":"<p><strong>Background: </strong>The study aimed to investigate the microbial diversity of soils from distinct environments, an urban park (SJ1) and an agricultural research field (SJ2) using serial dilution and spread plate techniques on nutrient agar, to identify region-specific bacterial strains with potential agricultural or biotechnological applications.</p><p><strong>Methods and results: </strong>Bacterial isolates were purified through selective sub-culturing, characterized via Gram staining and biochemical tests (MR-VP, catalase, oxidase), and preserved at 4 °C. Genomic DNA was extracted, PCR-amplified targeting the 16S rRNA gene, and sequenced for BLAST-based identification. Phylogenetic analysis (MEGA 12, neighbor-joining, 1000 bootstraps) and evolutionary rate estimation (maximum likelihood, gamma-distributed site variation) were performed to assess genetic relationships and divergence. Morphological and biochemical analyses revealed Gram-positive rods in both isolates, exhibiting catalase positive, oxidase negative, methyl red negetive, and Voges-Proskauer positive activity. Genomic DNA was extracted, and the 16S rRNA gene was amplified (~ 1500 bp), sequenced, and analyzed via BLASTN. SJ1 showed 99.84-99.92% identity with Bacillus spp., while SJ2 matched Priestia megaterium (99.92%). Phylogenetic analysis placed SJ1 within Bacillus subtilis strain SBIS1 (GenBank: PV523294.1), and SJ2 within P. megaterium strain PIIS1 (GenBank: PV523528.1), indicating distinct evolutionary lineages. Maximum likelihood estimation revealed differing evolutionary rates, i.e., SJ1 exhibited high rate heterogeneity, while SJ2 showed uniform rates. Mean relative evolutionary rates across five discrete gamma categories for SJ1 ranged from 0.08 to 2.75, while for SJ2 they ranged from 0.90 to 1.10. SJ1 showed 25.23% (A), 20.09% (T), 23.43% (C), and 31.26% (G); while SJ2 had 24.87% (A), 21.26% (T), 24.20% (C), and 29.68% (G). Maximum log-likelihood values were -3315.740 for SJ1 (1268 aligned sites) and -1034.491 for SJ2 (750 aligned sites), confirming robust phylogenetic inference.</p><p><strong>Conclusion: </strong>The study successfully identified distinct bacterial strains with unique evolutionary rates, genetic compositions, and robust divergence between the isolates, supporting their suitability for further agricultural or biotechnological exploration.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"706"},"PeriodicalIF":2.6,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144619087","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}

{"title":"Variable roles of miRNA- and apoptosis-linked genes in invasive breast cancer: expression patterns, clinicopathological associations, and prognostic significance.","authors":"Luděk Záveský, Eva Jandáková, Vít Weinberger, Luboš Minář, Radovan Turyna, Ondřej Slanař","doi":"10.1007/s11033-025-10739-1","DOIUrl":"https://doi.org/10.1007/s11033-025-10739-1","url":null,"abstract":"<p><strong>Introduction: </strong>Breast cancer is the most common cancer and the leading cause of cancer-related death in women. Differential gene expression can help identify genes involved in carcinogenesis or serve as biomarkers.</p><p><strong>Methods: </strong>This study provides a comprehensive evaluation of the gene expression focusing on apoptosis-related genes, in invasive breast carcinoma of no specific type compared with benign tissue. The gene expression of nine candidate genes identified as potential targets of certain microRNAs suggested as biomarkers and known for their role in apoptosis, and two additional apoptosis-related genes identified in the screening was evaluated using qPCR together with external datasets.</p><p><strong>Results: </strong>Screening of 92 apoptosis-related genes identified several dysregulated genes including downregulated BCL2L2 and upregulated BIRC5 genes, which were further confirmed as tumor suppressor and as an oncogene, respectively. Among the miRNA-related genes, HMGA2 and RAB22A were overexpressed, while ATF2, PPM1L, VPS4A, ZEB1, and ZFP36L1 were underexpressed. The BIRC5/BCL2L2 gene signature provided AUC of 0.975, sensitivity of 93.10% and specificity of 96.43%. Increased BIRC5 expression was associated with higher tumor grades and Ki-67-positive samples while decreased levels of BCL2L2 were associated with Ki-67-positive samples. Luminal A and B samples were distinguished by the differential expression of these two genes. The high expression of HMGA2 and BIRC5 genes was observed as a negative prognostic factor for both overall survival (OS) and progression-free survival (PFS) with a favorable OS difference of ~ 1 year for HMGA2 and 1.2 years for BIRC5 in the case of their low expression. External validation identified ZEB1 as a positive and BIRC5 as a negative prognostic factor for both overall and disease-free survival.</p><p><strong>Conclusion: </strong>The results highlighted genes with possible roles in apoptosis and acting in breast carcinogenesis. In particular, BIRC5 was shown as important oncogene and ZEB1 as a tumor suppressor in invasive breast cancer. Further studies are warranted to evaluate the potential of the investigated genes as biomarkers or therapeutic targets, with possible implications for breast cancer diagnosis and treatment.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"703"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608769","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}

{"title":"Gastric microbiome-derived Lacticaseibacillus casei strain RIGLD MG-1 relieves Helicobacter pylori-induced inflammation in gastric epithelial cells in vitro.","authors":"Masoomeh Ghasemipoor, Mohammad Yaghoubi-Avini, Masoumeh Azimirad, Ali Nabavi-Rad, Mehdi Azizmohammad Looha, Michael Doulberis, Christian Schulz, Abbas Yadegar","doi":"10.1007/s11033-025-10817-4","DOIUrl":"https://doi.org/10.1007/s11033-025-10817-4","url":null,"abstract":"<p><strong>Background: </strong>The burden of Helicobacter pylori infection is exacerbated by rising antibiotic resistance. Probiotics, especially Lactobacillus species, have shown potential as adjunctive therapies for H. pylori infection. This study aimed to isolate a Lactobacillus strain from the gastric microbiome of healthy individuals and assess its probiotic properties against H. pylori.</p><p><strong>Methods and results: </strong>Gastric biopsies were obtained from a cohort of 10 subjects, and used for bacterial isolation. The Lactobacillus strain was identified to species level using PCR and sequencing, followed by safety assessments. MTT assay was employed to measure AGS cell viability after exposure to various concentrations of H. pylori, as well as live and pasteurized Lactobacillus. Anti-inflammatory properties of the probiotic strain were assessed in AGS cells using RT-qPCR and ELISA. Additionally, the strain's potential to inhibit H. pylori adhesion and invasion was examined. Probiotic Lacticaseibacillus casei strain RIGLD MG-1 was isolated and characterized as non-pathogenic and found to be tolerant to acidic and bile-rich environments, and susceptible to several antibiotics. Live and pasteurized L. casei downregulated the expression of NF-κB, IL-8, TNF-α, and β-catenin, meanwhile upregulated the expression of IL-10 in H. pylori-treated cells. They also alleviated H. pylori-induced proinflammatory response by lowering IL-8 and TNF-α, and boosting IL-10 production. Additionally, both probiotic forms inhibited H. pylori adhesion and invasion in AGS cells.</p><p><strong>Conclusion: </strong>Our results show that L. casei strain RIGLD MG-1 is safe and demonstrates significant immunomodulatory and anti-adhesion effects, making it a potential probiotic for use as adjunctive therapy to mitigate H. pylori-induced inflammation.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"702"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608837","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}

{"title":"Beyond conventional therapy: NOX4 as a promising target in cardiomyopathy.","authors":"Nandini Dubey, Gauri Chaturvedi, Satnam Singh, Anita Chauhan, Pranav Panchbhai, Rajiv Narang, Neeraj Parakh, Ahsas Goyal, Harlokesh Narayan Yadav","doi":"10.1007/s11033-025-10818-3","DOIUrl":"https://doi.org/10.1007/s11033-025-10818-3","url":null,"abstract":"<p><p>Cardiomyopathy refers to disorders marked by structural and functional irregularities in the heart muscle, occurring independently of other conditions that might explain these abnormalities. The most common types are dilated and hypertrophic cardiomyopathies, while Takotsubo, restrictive, left ventricular non-compaction, and arrhythmogenic right ventricular cardiomyopathies are rarer. These conditions cause ventricular hypertrophy, fibrosis, myocardial dysfunction, and chamber dilation due to responses to stressors such as pressure overload, myocardial infarction, inflammation, diabetes, and cardiotoxic drugs. Oxidative stress, marked by an imbalance between reactive oxygen species (ROS) production and antioxidant defenses, plays a key role in the cardiac pathophysiology of various cardiomyopathy subtypes. In the heart, ROS are mainly generated by NADPH oxidase (NOX) under normal and pathological conditions. NADPH oxidase 4 (NOX4) is a major source of ROS within cardiomyocyte mitochondria. Research shows that ROS produced by NOX4 contribute to pathological cardiac remodeling, myocardial inflammation, fibrosis, apoptosis, genetic mutations, and hypertrophy. NOX4 inhibition or deletion alleviates these harmful effects. This review explores NOX4-driven ROS production across cardiomyopathy subtypes and its implications. Understanding the roles of NOX4 in cardiac health will help develop innovative therapeutic strategies for preventing and managing cardiomyopathy. This review aims to provide a synthesis of current knowledge regarding NOX4's function and regulatory mechanisms in cardiomyopathy.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"704"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608836","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}

{"title":"Association of HLA-DRA, HLA-DQA1, and IL-6 gene variations with susceptibility to multiple sclerosis.","authors":"Gulsah Koc, Aysegul Sahbaz, Busranur Oguz Selcuk, Fusun Mayda Domac, Serkan Demir, Mesrure Koseoglu, Ebru Hatun Uludasdemir, Deniz Kirac","doi":"10.1007/s11033-025-10783-x","DOIUrl":"https://doi.org/10.1007/s11033-025-10783-x","url":null,"abstract":"<p><strong>Background: </strong>Multiple sclerosis (MS), which can lead to severe physical or cognitive disability and neurological deficits, is a chronic autoimmune disease affecting the central nervous system (CNS). The etiology and pathogenesis of MS remain unclear; nonetheless, it is asserted that its cause is complex, with genetic predisposition playing a significant role. In this study, our aim was to analyze the relationship between MS and HLA-DRA (rs3135388 and rs3135391), HLA-DQA1 (rs9272346) and IL-6 (rs1800795 and rs1900796) gene polymorphisms, which play an important role in inflammation and immune response.</p><p><strong>Methods: </strong>The study included 100 healthy controls and 98 MS patients. Real-time polymerase chain reaction (RT-PCR) was used to analyze variations in rs3135388 and rs3135391 in the HLA-DRA gene, rs9272346 in the HLA-DQA1 gene, and rs1800795 and rs1900796 in the IL-6 gene following DNA isolation from peripheral blood. Statistical techniques were applied to assess the outcomes.</p><p><strong>Results: </strong>The results showed a significant difference in IL-6 (rs1800796) G/C (p = 0.024) between the patient and control groups when genotypes and allele distributions were analyzed. HLA-DQA1 (rs9272346) and HLA-DRA (rs3135388 and rs3135391) variations did not substantially differ between the two groups. Similarly, no significant difference was found between the two groups in VitD, B12 and folic acid parameters, and there was no relationship between these parameters and genotypes.</p><p><strong>Conclusion: </strong>There is evidence suggesting a significant association between IL-6 (rs1800796) polymorphisms and MS. IL-6 (rs1800796) GC genotype may be associated with disease susceptibility or risk. This should be taken into account in association and intervention studies on MS.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"701"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608835","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}

{"title":"KPC-157 and KPC-181 carbapenemases produced by Citrobacter freundii ST522 and Klebsiella pneumoniae ST258 isolated from wastewater.","authors":"João Pedro Rueda Furlan, Giovanna Carrasco Bueno, Rubens Renato Sousa-Carmo, Renan Lourenço Oliveira Silva, Mikaela Renata Funada Barbosa, Maria Ines Zanoli Sato, Florencia Brunetti, Pablo Power, Nilton Lincopan, Sergio Schenkman","doi":"10.1007/s11033-025-10801-y","DOIUrl":"https://doi.org/10.1007/s11033-025-10801-y","url":null,"abstract":"<p><strong>Background: </strong>While novel KPC variants continue to emerge among clinically relevant Enterobacterales from hospital settings, their occurrence in impacted aquatic environments has been poorly investigated. We hereby report KPC-157 and KPC-181, allelic variants of KPC-2, produced by Citrobacter freundii and Klebsiella pneumoniae isolated from wastewater in Brazil.</p><p><strong>Methods: </strong>Antimicrobial susceptibility was determined by disk diffusion and broth microdilution, whereas carbapenemase production was evaluated by inhibitor-based methods. Genome sequencing was performed combining short-read (Illumina HiSeq) and long-read (Oxford Nanopore) technologies, with further bioinformatic analyses. In silico KPC modeling was carried out using Yasara/PyMOL. Horizontal transfer and plasmid stability were assessed by conjugation and serial passage experiments, respectively. Epidemiological tracking of KPC-2 allelic variants and KPC-bearing plasmids was performed using publicly available genomes.</p><p><strong>Results: </strong>Carbapenem-resistant C. freundii strain M21 [sequence type (ST) 522] and K. pneumoniae strains M16 and M18 (ST258), harboring bla_KPC-157 and bla_KPC-181 genes, respectively, were recovered from a sewage treatment plant. KPC-157 and KPC-181 differed from KPC-2 by single amino acid substitutions (Asn132Ser and Glu275Asp, respectively) that do not affect the main kinetic behavior, preserving the classical KPC-2 resistance phenotype (i.e., carbapenem resistance and ceftazidime-avibactam susceptibility). KPC-2 allelic variants were embedded in Tn4401 transposons. KPC-157 was carried on an IncN2 plasmid, while KPC-181 was associated with an IncFIB(pQil)/IncFII(K) plasmid.</p><p><strong>Conclusion: </strong>The identification of KPC-157 and KPC-181 in wastewater highlights the role of polluted environments in harboring novel KPC variants from high-risk Enterobacterales clones and reinforces the importance of continued antimicrobial resistance surveillance beyond hospital settings.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"705"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608767","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}

{"title":"Potential role of terpenes in recovery from olfactory dysfunction with olfactory training: a review.","authors":"Aytug Altundag, Emirhan Harbi","doi":"10.1007/s11033-025-10795-7","DOIUrl":"https://doi.org/10.1007/s11033-025-10795-7","url":null,"abstract":"<p><p>The sense of smell is an important part of everyday life, yet many people around the world live with olfactory dysfunction or smell loss. The most common causes of olfactory dysfunction include upper respiratory tract infections, sinus diseases, and traumatic brain injury. Current treatment options are limited, and olfactory training is the most commonly used method clinically. Terpenes are volatile organic compounds found in plants that exhibit anti-inflammatory, neuroprotective, and anti-cancer effects. This review addresses the potential benefits of terpene use in olfactory training and proposes the development of a new terpene-centered training protocol. Terpenes have been shown to provide anti-inflammatory effects by inhibiting the NF-κB signaling pathway and may modulate olfactory receptors. Furthermore, they have the potential to provide neuroprotection, tissue regeneration, and neuroprotection by interacting with the endocannabinoid system and various cellular signaling pathways. This study aims to further understand the effects of terpenes in the treatment of olfactory dysfunctions and to develop new strategies to increase the efficacy of olfactory training.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"700"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608768","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}

{"title":"A novel truncated mutation in folate receptor α (FRα) affecting its glycosylation and affinity for folate in a consanguineous family with progressive encephalopathy: follow up and treatment improvement.","authors":"Felhi Rahma, Alila-Fersi Olfa, Bahri Mahjoub, Mkaouar-Rebai Emna, Chouchen Jihene, Fahkfakh Faiza, Tlili Abdelaziz","doi":"10.1007/s11033-025-10781-z","DOIUrl":"10.1007/s11033-025-10781-z","url":null,"abstract":"<p><strong>Introduction: </strong>Cerebral folate deficiency syndrome (CFDS) is a rare neurometabolic disorder with clinical features including late infantile onset refractory seizures, ataxia, movement disorder, unexplained global developmental delay, and leukoencephalopathy. It is an autosomal recessive disorder characterized by low levels of the active form of folate (5- MTHF) in cerebrospinal fluid (CSF) caused by mutations in FOLR1 gene. This gene encodes the membrane protein folate receptor \"FRα,\" which is a glycophosphatidylinositol (GPI)-anchored cell membrane protein that regulates folate transport into the cells.</p><p><strong>Patients and methods: </strong>Here, we report a consanguineous family with a girl diagnosed with progressive encephalopathy. To determine the genetic cause of this disease, whole exome sequencing (WES) was performed on the affected individual. As a further analysis, molecular docking and bioinformatics predictions were performed.</p><p><strong>Results: </strong>WES analysis revealed a novel homozygous frameshift mutation (c.466insT; p. Trp156LeufsTer12) in FOLR1 gene. This mutation was present at homozygous state in the affected patient which inherited it from her heterozygous parents. It generates a truncated FRα protein leading to the missing of two important glycosylation sites at Asn139 and Asn179 and the loss of the GPI anchor at Ala204 affecting protein anchoring in the cell membrane. In addition, molecular docking showed that the truncating mutation disturbs the affinity of the FRα receptor to its substrate the folate caused by the loss of important residues in the RFα-folate interaction region. Further, low level of 5-methyltetrahydrofolate was detected in the blood and the CSF of the patient. The patient was then treated with a dose of 5 mg/kg/day of FA as a supplement to antiepileptic drug (AED) leading to mild improvement that was achieved in terms of reactivity and motor skills.</p><p><strong>Conclusion: </strong>Based on the c.466insT; p. Trp156LeufsTer12 mutation segregation and low 5-methyltetrahydrofolate levels in the CSF, the studied patient was diagnosed with CFD.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"699"},"PeriodicalIF":2.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608834","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}

{"title":"CaMKK2 as a therapeutic target to combat metastasis in glioblastoma.","authors":"Geetha Sindogi, Sandeep Mallya, Manash K Paul, Sudharshan Prabhu","doi":"10.1007/s11033-025-10813-8","DOIUrl":"https://doi.org/10.1007/s11033-025-10813-8","url":null,"abstract":"<p><p>Glioblastoma, an aggressive primary brain malignancy associated with poor survival rate and limited curative interventions, posing significant challenges in clinical management. Calcium/calmodulin-dependent protein kinase kinase 2 (CAMKK2) is known to regulate various cellular processes including energy homeostasis and immune modulation under normal physiological conditions as well as promoting metastasis in several cancer types. This review delves into the intricate involvement of CAMKK2 in the virulence of glioblastoma. Several studies have suggested that CAMKK2 can be a potential biomarker and therapeutic target for glioblastoma. Differential expression of CAMKK2 across glioma grades highlights its potential utility in disease stratification. Specifically, elevated CAMKK2 expression in high-grade gliomas is associated with increased metastatic potential. Furthermore, CAMKK2 ha been implicated in promoting resistance to immune checkpoint blockade therapy, underscoring its protumorigenic role. Given its involvement in tumor progression metastasis, modulation of the tumor microenvironment, and therapy resistance, CAMKK2 represents a promising candidate for the development of novel glioblastoma treatment strategies.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"696"},"PeriodicalIF":2.6,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600996","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}