Molecular Biology Reports最新文献

{"title":"Effects of empagliflozin on interleukin-23 secretion from peripheral blood mononuclear cells in patients with type 2 diabetes versus healthy subjects: an in vitro study.","authors":"Elahe Kashi, Mahdi Behzad, Mehdi Karimi, Sara Alipour, Shiva Borzouei","doi":"10.1007/s11033-025-10868-7","DOIUrl":"https://doi.org/10.1007/s11033-025-10868-7","url":null,"abstract":"<p><strong>Background and objectives: </strong>Chronic inflammation is a critical contributor to the pathogenesis of type 2 diabetes mellitus (T2DM). Interleukin-23 (IL-23) is recognized as a key pro-inflammatory cytokine involved in immune dysregulation. Empagliflozin, a sodium-glucose cotransporter-2 (SGLT2) inhibitor, has been shown to exert anti-inflammatory effects; however, its specific influence on IL-23 production in peripheral blood mononuclear cells (PBMCs) remains unclear. This study aims to evaluate the impact of empagliflozin on IL-23 secretion in PBMCs isolated under in vitro conditions.</p><p><strong>Methods: </strong>This in vitro case-control study was conducted in Iran in 2024 and included 50 participants (23 males and 27 females), comprising 25 individuals with T2DM and 25 age- and sex-matched healthy controls. Blood samples were collected from all participants to assess fasting blood glucose (FBG) and hemoglobin A1c (HbA1c) levels. In vitro, empagliflozin was added to the blood samples at a concentration of 100 µg/mL. IL-23 levels were measured in both groups before and after treatment with empagliflozin. Statistical analyses were conducted using SPSS version 21.</p><p><strong>Results: </strong>Statistical analysis revealed that IL-23 secretion from PBMCs cultured with empagliflozin was significantly reduced compared to untreated cultures in both individuals with T2DM (p < 0.001) and healthy controls (p = 0.048). Baseline IL-23 levels were significantly higher in the T2DM group compared to the control group, and this difference remained significant following empagliflozin treatment (p = 0.021). Moreover, the magnitude of empagliflozin's effect on IL-23 secretion differed significantly between the two groups (p = 0.016). In the T2DM group, IL-23 secretion showed a positive correlation with FBG and HbA1c levels in the absence of empagliflozin; however, these correlations were weak or non-significant following treatment. No significant correlations were observed in the control group under either condition.</p><p><strong>Conclusion: </strong>Empagliflozin significantly reduces IL-23 secretion in both T2DM patients and healthy individuals, with a more pronounced effect observed in those with T2DM. These findings suggest that empagliflozin may exert anti-inflammatory effects independent of glycemic control, underscoring its potential role in mitigating immune dysregulation and chronic inflammation in T2DM.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"763"},"PeriodicalIF":2.8,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732319","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":"Human long non-coding RNAs acquired from bacteria via horizontal gene transfer promote gallbladder cancer.","authors":"Manoj Pandey, Monika Rajput, Pooja Singh, Vijay K Shukla, Ruhi Dixit","doi":"10.1007/s11033-025-10870-z","DOIUrl":"https://doi.org/10.1007/s11033-025-10870-z","url":null,"abstract":"<p><strong>Background: </strong>Gallbladder cancer, the most common malignancy of the bile duct, has a poorly understood etiopathogenesis. Non-coding RNAs are implicated in various cancers, but their role in gallbladder carcinogenesis remains unclear.</p><p><strong>Methods: </strong>Transcriptomic data from gallbladder cancer patients were analyzed to identify differentially expressed long non-coding RNAs (lncRNAs). These data underwent cross-species phylogenetic analysis and BLAST comparison with bacterial and ancient human genomes, including Homo heidelbergensis and Homo neanderthalensis. Pathway analysis, gene-gene interactions, and data and text mining were performed for non-conserved, non-coding genes.</p><p><strong>Results: </strong>Of 16 differentially expressed lncRNAs, seven showed phylogenetic links to bacterial genomes, suggesting acquisition through horizontal gene transfer (HGT) during human evolution. These lncRNAs were present in ancient human species with sequence variations. Functional analysis revealed their role in regulating biological and genetic processes, potentially promoting gallbladder carcinogenesis.</p><p><strong>Conclusions: </strong>This is the first study to propose that seven human lncRNAs, likely of bacterial origin, were acquired through HGT during evolution. These lncRNAs regulate transcriptional and post-transcriptional processes, potentially inducing gallbladder carcinogenesis, thus highlighting a novel link between evolutionary genetics and cancer.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"762"},"PeriodicalIF":2.8,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732274","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":"Mapping rat lncRNA Bdnf-as.","authors":"Elizaveta V Shaburova, Sergey A Marchenko, Veronika B Dneprovskaya, Anna V Sborschikova, Dmitriy A Lanshakov","doi":"10.1007/s11033-025-10871-y","DOIUrl":"https://doi.org/10.1007/s11033-025-10871-y","url":null,"abstract":"<p><strong>Background: </strong>Long noncoding RNAs (lncRNAs) are increasingly recognized for their roles in regulating gene expression, yet they remain poorly understood, especially in non-human species. This study investigates the lncRNA Bdnf-as in rats, which modulates the transcription of the Bdnf gene through interactions with chromatin remodelers.</p><p><strong>Methods: </strong>In this study, we employed a variety of methodologies to identify novel antisense transcripts of Bdnf-as in the rat genome. These methodologies included step-out rapid amplification of cDNA ends, lentivirus infusion in the neonatal rat prefrontal cortex (PFC), TET-on construct expression induction with doxycycline, de novo transcriptome assembly, and bioinformatics analysis. Our findings, derived from these rigorous methods, have led to the identification of two novel antisense transcripts of Bdnf-as in the rat genome.</p><p><strong>Results: </strong>These transcripts, located downstream of the Bdnf coding region, exhibit splicing and appear to be influenced by overexpression of proBDNF. The application of reverse transcription from gene-specific primers in conjunction with quantitative polymerase chain reaction (qPCR) analysis revealed that Bdnf-as exhibited augmented expression exclusively following proBDNF expression induction from a lentiviral construct, and not in the presence of a mutated form. A bioinformatic analysis revealed the potential binding of the following proteins to this site: E2F1, VDR, SP3, ZNF354C, YY2, SPI1, RUNX1, and TBX3. A comparative genomic analysis revealed limited evolutionary conservation of Bdnf-as between rats, humans, and mice, reflecting the rapid divergence of lncRNAs. The analysis of RNAseq data indicates that Bdnf-as is expressed at low levels and is likely unstable, a factor that could contribute to its detection challenges.</p><p><strong>Conclusions: </strong>The present findings offer the initial characterization of rat Bdnf-as, its differential expression depending on expression construct, thus establishing the foundation for future studies to explore its regulatory functions and protein interactions in neurobiological processes.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"764"},"PeriodicalIF":2.8,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732275","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":"Protocatechuic acid modulates the circadian rhythm of keratinocytes and maintains skin barrier integrity.","authors":"Juyeon Lee, Ji-Young Kim, Jun Ho Lee, Kyung-Ha Lee","doi":"10.1007/s11033-025-10880-x","DOIUrl":"https://doi.org/10.1007/s11033-025-10880-x","url":null,"abstract":"<p><strong>Background: </strong>Circadian rhythms are intrinsic 24-h biological cycles that regulate key physiological processes, including skin cell proliferation, DNA repair, and barrier homeostasis. Disruption of these rhythms accelerates skin aging, compromises barrier integrity, and increases susceptibility to oxidative stress. Protocatechuic acid (PCA) is a naturally occurring compound with antioxidant and anti-inflammatory properties; however, its role in regulating circadian rhythms has not been previously explored. Therefore, this study aimed to investigate the potential of PCA to regulate the circadian rhythm within keratinocytes and the broader effects of PCA on skin physiology.</p><p><strong>Methods and results: </strong>This potential of PCA as a circadian rhythm modulator in human epidermal keratinocytes was investigated. PCA enhanced circadian activity in a dose-dependent manner, as evidenced by increased amplitude of basic helix-loop-helix ARNT like 1 (BMAL1)-driven bioluminescence. In silico docking revealed strong binding affinity of PCA to retinoic acid-related orphan receptor alpha (RORα), a core clock regulator, suggesting a molecular mechanism of action. PCA also modulated core clock gene expression. Under oxidative stress conditions, PCA reduced reactive oxygen species (ROS) levels and upregulated antioxidant enzymes, including catalase and superoxide dismutase 1. Additionally, PCA promoted skin barrier integrity by increasing structural protein and ceramide-related gene expression and enhanced cellular longevity markers, such as cyclin-dependent kinase inhibitor 1B (CDKN1B) and telomerase reverse transcriptase (TERT).</p><p><strong>Conclusions: </strong>These findings demonstrate that PCA functions as a multifunctional agent that modulates circadian rhythms, reduces oxidative stress, and supports skin barrier homeostasis and cellular longevity. Overall, PCA shows strong potential as a therapeutic candidate for treating skin disorders associated with circadian disruption and oxidative damage.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"765"},"PeriodicalIF":2.8,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732276","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":"Conservation genetics of a freshwater turtle (Trachemys hartwegi) in a threatened riverine ecosystem.","authors":"Ernesto Becerra, Bruno Rodríguez López, Miguel Borja, Yessica Rico","doi":"10.1007/s11033-025-10858-9","DOIUrl":"10.1007/s11033-025-10858-9","url":null,"abstract":"<p><strong>Background: </strong>Freshwater ecosystems face unprecedented degradation due to habitat destruction, pollution, and climate change, necessitating urgent conservation actions to protect vulnerable freshwater species. Freshwater turtles are among the most threatened vertebrates globally, with their survival constrained by thermal sensitivity and aquatic habitat requirements. The Mexican Plateau Slider (Trachemys hartwegi) is a vulnerable freshwater turtle restricted to riverine areas in the arid regions of northern Mexico, which faces critical threats from habitat loss, fragmentation, and illegal pet trade collection, compromising population viability across its limited range.</p><p><strong>Methods and results: </strong>Using 13 microsatellite loci, we genotyped 148 T. hartwegi individuals from 10 sampling sites spanning three dam-divided sections of Durango Nazas River to examine genetic diversity, structure, and estimate demographic parameters, as well as to identify suitable habitats under current and future climatic scenarios. Our results showed low levels of genetic diversity compared to other Mexican Trachemys species. Despite the presence of two dams along the Nazas River, we found no significant genetic structure. The estimated effective population size was relatively low (Ne = 307), a finding that cannot be attributed to contemporary population declines, as no evidence of recent bottlenecks was detected. Our models under climate change scenarios for 2040 and 2060 projected a decline of 73 to 76% in available habitats, with dam sites representing future refugia in the Nazas River.</p><p><strong>Conclusions: </strong>Our findings reveal critical conservation challenges for T. hartwegi. A low effective population size may not be sufficient to ensure long-term population viability, while ENMs predicted dramatic habitat loss under current climate trends. This study highlights the critical need for adaptive management balancing competing demands for human water resources, while preserving the riverine habitat connectivity, which influences ecosystem integrity.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"761"},"PeriodicalIF":2.8,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718192","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 narrative overview of Staphylococcus haemolyticus: resistance traits, virulence factors, and health impact.","authors":"U Meenatchi, A Sridevi, A E Harish Vikas, Piyush Jagdish Balgote, Jayanthi Sivaraman","doi":"10.1007/s11033-025-10773-z","DOIUrl":"https://doi.org/10.1007/s11033-025-10773-z","url":null,"abstract":"<p><p>Staphylococcus haemolyticus (S. haemolyticus) is a Gram-positive, facultative anaerobic bacterium emerging as a significant nosocomial pathogen, particularly in neonatal intensive care units. It primarily affects immunocompromised individuals and exhibits high levels of antibiotic resistance among coagulase-negative staphylococci (CoNS), underscores its global public health relevance. Advances in sequencing technologies have provided genomic insights into its pathogenicity, including biofilm formation and secretion of virulence factors. The organism is implicated in device-associated meningitis and neonatal central nervous system (CNS) infections. Current therapeutic challenges necessitate alternative treatment strategies, such as phage-derived endolysins and linezolid, especially when conventional options fail. This review outlines a comprehensive understanding of S. haemolyticus, focusing on its antibiotic resistance, virulence determinants, and the need for innovative approaches to combat healthcare-associated infections.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"760"},"PeriodicalIF":2.8,"publicationDate":"2025-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732317","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":"The association of RAGE gene polymorphisms with inflammatory and oxidative stress markers in diabetic kidney disease patients.","authors":"Wijdan Abdullameer Kamel, Mehdi Haghi, Hamid Tayebi Khosroshahi, Gholamreza Dehghan","doi":"10.1007/s11033-025-10846-z","DOIUrl":"https://doi.org/10.1007/s11033-025-10846-z","url":null,"abstract":"<p><strong>Introduction: </strong>The receptor for advanced glycation end products (RAGE) plays a significant role in diabetic kidney disease (DKD) complications.</p><p><strong>Materials and methods: </strong>This study examined the association between RAGE gene polymorphisms (rs2070600 and rs184003) and inflammatory and oxidative stress markers in DKD. Fifty DKD patients and fifty healthy controls were enrolled.</p><p><strong>Results: </strong>For the rs2070600 variant, the CC genotype and C allele frequencies were 64% and 82% in DKD patients, respectively, while the TT genotype was more prevalent in controls (P = 0.002). The A allele homozygous genotype of rs184003 was more common in controls than in DKD patients (P = 0.037). Furthermore, haplotype association and linkage disequilibrium (LD) analyses were performed, and the findings revealed that the C-C and A-T haplotypes were significantly more frequent in DKD patients and healthy controls, respectively. In DKD patients, a significant increase in myeloperoxidase (MPO) and catalase (CAT) activities and a decrease in glutathione peroxidase (GPx) activity were observed (P < 0.001). Serum concentrations of IL-6 (13.63 ± 5.89 pg/mL vs. 4.93 ± 1.74 pg/mL; P < 0.001) and TNF-α (58.19 ± 26.48 pg/mL vs. 12.69 ± 5.71 pg/mL; P < 0.001) were significantly elevated in the DKD group. For rs184003, the A allele and AA genotype were more common in controls, suggesting a reduced DKD risk. In individuals with the CC and CT genotypes for rs2070600 and the CC, CA, and AA genotypes for rs184003, elevated malondialdehyde, IL-6, TNF-α, and MPO activity were observed, alongside reduced CAT and GPx activities.</p><p><strong>Conclusion: </strong>RAGE polymorphisms may contribute to increased oxidative stress and reduced antioxidant capacity in DKD, underscoring their role in the disease's pathogenesis.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"759"},"PeriodicalIF":2.8,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732277","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":"Alfalfa (Medicago sativa) and neurodegeneration: mechanistic insights into oxidative stress, inflammation, and neuronal survival pathways.","authors":"Akansha Pal, Vashu Bhardwaj, Falguni Goel, Vipin Kumar Garg","doi":"10.1007/s11033-025-10840-5","DOIUrl":"10.1007/s11033-025-10840-5","url":null,"abstract":"<p><p>Neurodegenerative disorders such as Alzheimer's, Parkinson's, and Huntington's disease are hallmarked by neuronal loss with the pathogenic impetus of oxidative stress, neuroinflammation, and perturbed cell survival signaling. Alfalfa (Medicago sativa), a flavonoid-, saponin-, and phytoestrogen-rich bioactive legume, has been under the spotlight due to its presumed neuroprotective activity. This review discusses the function of Alfalfa in sustaining oxidative stress control, neuroinflammation reduction, and regulation of crucial molecular processes of neuronal survival and apoptosis. We detail how Alfalfa antioxidants inhibit reactive oxygen species (ROS) and amplify endogenous processes for preventing oxidative damage. We also discuss anti-inflammatory actions of the plant by inhibiting pro-inflammatory cytokines and pathways like NF-κB and MAPK. Furthermore, we present novel evidence for Alfalfa's role in neuronal survival pathways such as PI3K/Akt, Nrf2/ARE, and BDNF signaling. By combining data from in vitro, in vivo, and clinical studies, this review tries to outline the therapeutic potential of Alfalfa in neurodegeneration and provide a basis for future studies on its possible application as a neuroprotective agent.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"758"},"PeriodicalIF":2.8,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718191","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":"Curcumin promotes functional recovery after spinal cord injury by enhancing autophagic flux and attenuating apoptosis.","authors":"Ghufran Lutfi Ismaeel, Haider Kamil Zaidan, Ayoob Murtadha Alshaikh Faqri, Tariq J Al-Musawi, Mustafa Mudhafar, Hasan Ali Alsailawi","doi":"10.1007/s11033-025-10869-6","DOIUrl":"https://doi.org/10.1007/s11033-025-10869-6","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to investigate the neuroprotective effects of curcumin on apoptosis and autophagy regulation following spinal cord injury (SCI) in a rat model.</p><p><strong>Methods: </strong>Adult male rats were randomly assigned to three groups: sham, SCI, and SCI + curcumin (100 mg/kg/day, i.p. for 14 days). SCI was induced using a standardized contusion model at T9. Locomotor recovery was evaluated using the Basso, Beattie, and Bresnahan (BBB) score over 28 days post-injury. Histopathological assessment was performed on spinal cord sections using hematoxylin and eosin (H&E) and Nissl staining. Apoptosis was assessed using the TUNEL assay, counterstained with DAPI. Immunofluorescence staining for LC3 and p62 and Western blotting for LC3-I/II, Beclin-1, and p62 were used to evaluate autophagic responses.</p><p><strong>Results: </strong>Curcumin significantly improved locomotor function in SCI rats, as indicated by higher BBB scores. Histological analysis revealed reduced cavitation and preserved neuronal architecture in the SCI + curcumin group. The percentage of TUNEL-positive cells was significantly reduced in the curcumin-treated group (30.47 ± 10.41%) compared to the SCI group (68.75 ± 12.25%, p < 0.01). Curcumin treatment enhanced autophagic activity by increasing LC3 puncta and reducing p62 aggregates. Western blot data confirmed upregulation of Beclin-1 and LC3-II, restoration of LC3-I, and suppression of p62 expression.</p><p><strong>Conclusion: </strong>Curcumin exerts neuroprotective effects following SCI, potentially by attenuating apoptosis within spinal tissue and enhancing autophagic flux through modulation of key regulatory markers. These findings suggest that curcumin may be a promising therapeutic agent for SCI treatment.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"757"},"PeriodicalIF":2.8,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732318","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":"Evidence based molecular pathways, available drug targets, pre- clinical animal models and future disease modifying treatments of huntington's disease.","authors":"Falguni Goel, Vaishali Dobhal, Daksh Kumar, Sachchida Nand Rai, Dharmendra Kumar Yadav","doi":"10.1007/s11033-025-10852-1","DOIUrl":"https://doi.org/10.1007/s11033-025-10852-1","url":null,"abstract":"<p><p>Huntington's disease is an autosomal dominant neurodegenerative disorder of variable progression. Its major features are motor dysfunction, cognitive decline, and psychiatric disturbances. The onset of HD in a patient occurs because of a polyglutamine-expanding mutation within the HTT gene, which leads to the formation of mutant huntingtin protein that aggregates and disrupts neuronal function. Epidemiologically, HD afflicts about 5-10 people per 100,000 throughout the world. However, among populations of European descent, its prevalence is increased. Even after much study into the disorder, myths prevail relating to onset and inheritance of this disorder; including myths such as non-genetic transmission, along with myths such as variation in symptoms, the myths feed on stigma, contributing to a delay in diagnosis and management. Neurodegenerative level in HD affects the basal ganglia especially the striatum leading to impaired motor coordination, chorea, and cognitive deficits. Pathophysiology encompasses excitotoxicity, mitochondrial dysfunction, oxidative stress, and impaired protein clearance mechanisms that end in neuronal loss. The future research areas in the management of HD include gene silencing techniques, stem cell therapy, and even advanced neuroprotective agents acting through a disease-modifying mechanism. The hope of CRISPR-Cas9 gene editing is correction at the source level, and ASOs target reduction in the expression of the mutant huntingtin protein. The introduction of personalized medicine for discovery based on biomarkers could further buttress early diagnosis and effectiveness of treatment. The most revolutionary approach towards the treatment of HD can be a multi-disciplinary approach encompassing conventional therapies and novel genetic techniques.</p>","PeriodicalId":18755,"journal":{"name":"Molecular Biology Reports","volume":"52 1","pages":"754"},"PeriodicalIF":2.6,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708172","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}