Developmental Neurobiology最新文献

{"title":"Neuronal Plasticity in the Mushroom Bodies of Winter Bees Is Retained Despite Substantially Advanced Age.","authors":"Nadine Kraft, Wolfgang Rössler, Claudia Groh","doi":"10.1002/dneu.23006","DOIUrl":"10.1002/dneu.23006","url":null,"abstract":"<p><p>Honeybee (Apis mellifera) workers exhibit remarkable behavioral plasticity throughout adult life. In spring and summer, they transition through diverse tasks over a short lifespan of 4-6 weeks. This involves dramatic changes in sensory environment and cognitive demands associated with pronounced structural neuronal plasticity in the mushroom bodies (MBs), high-order brain centers for sensory integration, learning, and memory. This plasticity manifests as age- and experience-related volume increase in sensory input regions of the MB calyces, accompanied by pruning of projection neuron (PN) boutons in synaptic microcircuits within visual and olfactory compartments. As winter approaches, honeybees suspend brood rearing and foraging activities to survive the cold months by forming a tight, thermoregulated cluster. Unique physiological adaptations enable winter bees to live up to 8 months until a new generation emerges in spring. This extended lifespan occurs during a period of reduced sensory input and high metabolic costs raising the question of how such conditions affect structural neuronal plasticity. Using synapsin immunolabeling and 3D confocal-microscopy image analyses of MB synaptic neuropils in whole-mount brains of age-controlled worker bees, we found that winter bees retain a high degree of neuronal plasticity throughout their lifespan. MB calyces exhibit an initial volume increase followed by a period of stagnation to then undergo another expansion at the onset of spring foraging. While olfactory PN boutons exhibit continuous pruning, visual bouton numbers remain stable during winter. We conclude that winter bees retain comparable neuronal capacities to summer bees, despite strong differences in lifespan, physiological, and environmental conditions.</p>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":"e23006"},"PeriodicalIF":2.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12476488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145181864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered Serum IL-6 and TGF-β1 Levels Are Associated With Generalized Anxiety Disorder: A Case–Control Study","authors":"Md. Ashrafuzzaman Alfi,&nbsp;Jannatul Naim,&nbsp;Iftekhar Ahmed,&nbsp;Mohammad Fahim Kadir,&nbsp;Sarder Mohammad Ashraful Islam,&nbsp;Mohiuddin Ahmed Bhuiyan,&nbsp;Md. Rabiul Islam","doi":"10.1002/dneu.23004","DOIUrl":"10.1002/dneu.23004","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Generalized anxiety disorder (GAD) is a chronic psychiatric disease characterized by excessive and uncontrollable worry about common life events. Neurological, neurochemical, genomic, environmental, psychogenic, and immunological factors are thought to be involved in GAD. However, studies conducted to establish any suitable biomarkers for the assessment of anxiety disorder is limited. Hence, we aim to investigate the serum levels of interleukin-6 (IL-6) and transforming growth factor-beta 1 (TGF-β1) in GAD patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>The present study enrolled 44 GAD patients and 44 healthy controls (HCs) from a tertiary care teaching hospital in Dhaka, Bangladesh. A qualified psychiatrist assessed the study population based on the criteria mentioned in the DSM-5. We measured the serum levels of IL-6 and TGF-β1 using the commercially available enzyme-linked immunosorbent assay (ELISA) kits.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We noted a significant reduction in serum IL-6 and TGF-β1 levels in GAD patients compared to HCs (IL-6: 7.72 ± 2.14 vs. 9.39 ± 1.22 pg/mL; <i>p</i> = 0.003, and TGF-β1: 386.77 ± 157.91 vs. 774.51 ± 327.73 pg/mL; <i>p</i> = 0.001). Moreover, a significant negative association was found between the levels of IL-6 and GAD-7 scores among the GAD patients (<i>r</i> = −0.395, <i>p</i> &lt; 0.001). Lastly, the ROC analysis demonstrated a strong predictive accuracy with a moderately higher area under the curve (AUC) value (IL-6: 0.888 and TGF-β1: 0.891), relatively higher sensitivity (IL-6: 85.3% and TGF-β1: 85.6%), and higher specificity (IL-6: 86.7% and TGF-β1: 82.4%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study findings underscore that lowered IL-6 and TGF-β1 levels might have a role in the pathophysiology and development of GAD. Therefore, the alterations of cytokines have a crucial role in evaluating the GAD patients. We suggest further interventional studies to determine the actual predictive performance of IL-6 and TGF-β1 in GAD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145130366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab-GTPase Regulation in Neurodevelopmental Disorder","authors":"Murat Ozturk,&nbsp;Cahide Bulut Arslan,&nbsp;Ekrem Akbulut,&nbsp;Esra Habiloglu,&nbsp;Esra Yaylı,&nbsp;Zehra Oya Uyguner","doi":"10.1002/dneu.22998","DOIUrl":"https://doi.org/10.1002/dneu.22998","url":null,"abstract":"<div>\u0000 \u0000 <p>Recent reports have linked biallelic loss-of-function variants in the <i>TBC1D2B</i> gene to neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) (OMIM 619323), a rare condition characterized by seizures and gingival hyperplasia. However, due to the limited number of reported cases, the phenotypic diversity of this syndrome remains poorly characterized. This study reports four affected children from a consanguineous family in Türkiye, in whom a novel variant in this gene was identified. All individuals underwent clinical examination, electroencephalography (EEG), brain magnetic resonance imaging (MRI), histopathological evaluation, and genetic analyses. A novel homozygous truncating variant in the <i>TBC1D2B</i> gene was identified. In silico protein structure modeling was performed to investigate the potential impact of the variant. The identified c.323_324delinsAA; p.(Phe108Ter) variant causes premature protein truncation, resulting in the loss of key functional domains, such as Rab-GAP-TBC, coiled-coil, and PH (pleckstrin homology). All patients exhibited developmental delay (DD), epileptic seizures, gingival fibromatosis, and craniofacial anomalies. The growth delay seen in both of our patients, also described in an earlier case with the same gene variant, suggests that this may be a clinical feature of the syndrome. Binding pocket analysis revealed marked reductions in putative protein interaction regions, suggesting a loss-of-function effect due to the mutation. These findings reveal previously unrecognized aspects of both the genetic and clinical spectrum of NEDSGO syndrome caused by variants in the <i>TBC1D2B</i> gene. The resulting data underscore that disruption of structural protein regions directly contributes to the phenotype of this rare disorder.</p>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144929689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatic Encephalopathy: Insights Into the Impact of Metabolic Precipitates","authors":"Udit Kumar Dash,&nbsp;Aparna Tripathi,&nbsp;Debashree Mazumdar,&nbsp;Dusmanta Podh,&nbsp;Santosh Singh","doi":"10.1002/dneu.22999","DOIUrl":"https://doi.org/10.1002/dneu.22999","url":null,"abstract":"<div>\u0000 \u0000 <p>Hepatic failure is a severe condition marked by the progressive or sudden loss of liver function, broadly categorized into acute liver failure (ALF), which develops within days to weeks, and chronic liver failure (CLF), which evolves over months or years. Both forms can lead to serious complications such as jaundice, impaired detoxification, portal hypertension, ascites, multi-organ dysfunction, and coagulation disorders. A significant neuropsychiatric consequence of liver failure is hepatic encephalopathy (HE), a spectrum of cognitive, motor, and behavioral abnormalities. Although elevated ammonia levels have long been implicated as a central factor in the pathogenesis of HE, emerging evidence suggests that other metabolic toxins also play critical roles. These include manganese (Mn), altered glucose metabolism, short-chain fatty acids (SCFAs), mercaptans, and gamma-aminobutyric acid (GABA). This review aims to explore the multifactorial metabolic landscape contributing to HE, highlighting the potential synergistic effects and mechanistic roles of these blood-borne precipitates. Understanding these diverse metabolic contributors may pave the way for more comprehensive diagnostic and therapeutic approaches beyond the traditional focus on ammonia.</p>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144929684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental Outcomes of Mycotoxins Exposure and Effect on Brain Development in Infants and Young Children","authors":"Laure Viviane Ndam Ngoungoure,&nbsp;Wilfred Angie Abia,&nbsp;Brice Vincent Ayissi Owona,&nbsp;Yacouba Foupouapouognigni,&nbsp;Ferdinand Kouoh Elombo,&nbsp;Herman Philipe Njitoyap Nfombouot,&nbsp;Epole Ngolle Ntungwe,&nbsp;Frederic N. Njayou,&nbsp;Angéle N. Tchana,&nbsp;Paul F. Moundipa","doi":"10.1002/dneu.23000","DOIUrl":"https://doi.org/10.1002/dneu.23000","url":null,"abstract":"<div>\u0000 \u0000 <p>This comprehensive literature review was conducted to identify relevant studies on mycotoxins and brain development in children. Existing studies suggest that mycotoxin exposure during critical periods of brain development may lead to neurocognitive impairments in children. Some studies have reported associations between mycotoxin exposure and reduced cognitive abilities, impaired motor skills, and behavioral problems. Additionally, mycotoxins have been shown to disrupt neural signaling pathways and interfere with neurotransmitter function, potentially contributing to neurodevelopmental disorders. This comprehensive review has provided a comprehensive overview of the possible evidence on the association between mycotoxin exposure and brain development in children and identified areas for future research.</p>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144929690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroinflammatory Pathways in Autism Spectrum Disorder: Unraveling the Role of Sirtuin 1 in Clinical Samples","authors":"Merve Cikili-Uytun,&nbsp;Esra Yurumez,&nbsp;Banu Kaymak,&nbsp;Ozlem Dogan,&nbsp;Humeyra Hilal Ozturk,&nbsp;Beyza Nur Baysar Kanoglu,&nbsp;Didem Behice Oztop","doi":"10.1002/dneu.22981","DOIUrl":"https://doi.org/10.1002/dneu.22981","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Despite extensive research, the etiological factors contributing to autism spectrum disorder (ASD) remain incompletely understood, with potential influences ranging from genetic predispositions to environmental factors. Sirtuin 1 (SIRT1), an NAD⁺-dependent histone deacetylase involved in mitigating oxidative stress and its association with other neurodevelopmental disorders, explores its function in ASD. This study aimed to elucidate the relationship between SIRT1 and inflammatory cytokines, specifically interleukin 6 (IL-6) and tumor necrosis factor alpha (TNF-α), in patients with ASD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>This study enrolled 46 children diagnosed with ASD and 44 typically developing (TD) children aged 36–120 months. Diagnosis of ASD was confirmed using DSM-5 criteria through clinical and observational assessments conducted by three experienced child and adolescent psychiatrists at the outpatient Infant Mental Health unit of Ankara University. The Childhood Autism Rating Scale (CARS) and the Repetitive Behavior Scale-Revised (RBS-R) were used to assess autistic behaviors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>Analysis of serum levels of SIRT1, IL-6, and TNF-α revealed no significant differences between the ASD group and the TD group. Correlation analysis demonstrated a significant positive relationship between SIRT1 levels and IL-6 (<i>r</i> = 0.71, <i>p</i> &lt; 0.001) and TNF-α (<i>r</i> = 0.86, <i>p</i> &lt; 0.001). Additionally, regression phenomena exhibited a moderate negative correlation with IL-6 (<i>r</i> = −0.32, <i>p</i> = 0.02) and TNF-α (<i>r</i> = −0.38, <i>p</i> = 0.008). Age was positively correlated with levels of IL-6, TNF-α, and SIRT1. However, no correlations were found between these parameters and gender.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>These findings do not support the hypothesized role of disturbances in the expression of circulating cytokines and SIRT1 as indicators of systemic inflammation in autism. Further longitudinal studies should examine these immune markers in blood samples from large sample sizes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144918842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dectin-1 Drives Diabetic Retinopathy via Inducing Microglia-Mediated Inflammation and Blood–Retinal Barrier Breakdown","authors":"Lei Zhang,&nbsp;Sumei Zhang,&nbsp;Yingjun Li,&nbsp;Zhen Yang,&nbsp;Weikang Hu,&nbsp;Hongmei Bai,&nbsp;Wenjing Zhou,&nbsp;Zihan Wang,&nbsp;Mingcong Li,&nbsp;Shengquan Zhang,&nbsp;Rongfeng Liao","doi":"10.1002/dneu.22997","DOIUrl":"https://doi.org/10.1002/dneu.22997","url":null,"abstract":"<div>\u0000 \u0000 <p>Diabetic retinopathy (DR), a prevailing manifestation among diabetic patients, occurs as a major sight-threatening disorder. <i>Dectin-1</i>, as an innate immune receptor, has been notified as a critical modulator of diabetes mellitus. In this context, the implication of <i>Dectin-1</i> in the process of DR that is still a conundrum will be addressed here. The diabetic mouse model was established by intraperitoneal injection of streptozotocin (STZ), and human microglia cells (HMC3) were subjected to high glucose (HG) to create cellular models of diabetes. Glucose level and body weight were recorded in mice. Reverse transcription-quantitative PCR (RT-qPCR) and western blotting checked <i>Dectin-1</i> expression. RT-qPCR, enzyme-linked immunosorbent assay (ELISA), and western blotting appraised the inflammatory levels. Immunofluorescence staining and western blotting ascertained the expression of IBA-1 and tight junction proteins. Besides, western blotting also examined albumin expression. Terminal-deoxynucleoitidyl transferase mediated nick end labeling (TUNEL) assay and western blotting assayed the apoptotic level. <i>Dectin-1</i> was highly expressed in both retinal tissues of diabetic mice and HG-exposed HMC3 cells. <i>Dectin-1</i> antagonist laminarin (LAM) observably repressed microglia activation, inflammatory reaction, and blood–retinal barrier (BRB) leakage both in vitro and in vivo. Moreover, LAM produced anti-apoptotic effect in vivo. To sum up, <i>Dectin-1</i> inhibitor might block the inflammatory cascade and protect against BRB disruption in DR.</p>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spinal Astrocytes in Chronic Visceral Pain","authors":"Wenfeng Li,&nbsp;Lili Zhang,&nbsp;Shaozong Chen","doi":"10.1002/dneu.22996","DOIUrl":"https://doi.org/10.1002/dneu.22996","url":null,"abstract":"<div>\u0000 \u0000 <p>Chronic visceral pain is the primary symptom of functional gastrointestinal disorders, affecting up to 20% of the population. It involves peripheral sensitization in the peripheral nervous system and central sensitization in the central nervous system (CNS). In recent years, related research has extended from neurons to glial cells, particularly astrocytes in the spinal cord, which become activated, exhibit enhanced coupling, and show higher sensitivity to pain mediators. This review discusses the mechanisms of spinal astrocytes in different animal models of visceral pain. A role of spinal astrocytes in the pathogenesis of visceral pain is also emerging, and astrocytes are likely to be a target for the future therapies of chronic visceral pain.</p>\u0000 </div>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Procedural Pain Disrupts Phosphorylation of KCC2 in the Spinal Cord","authors":"Mathilde Baudat,&nbsp;Elbert A. J Joosten,&nbsp;Sinno H. P. Simons,&nbsp;Daniël L. A. van den Hove,&nbsp;Renzo J. M. Riemens","doi":"10.1002/dneu.22993","DOIUrl":"https://doi.org/10.1002/dneu.22993","url":null,"abstract":"<p>Neonatal procedural pain experienced in the neonatal intensive care unit can lead to long-lasting remodeling of the central nervous system and, in particular, of the spinal nociceptive network. Preclinical studies indicate a disrupted inhibitory versus excitatory balance in the spinal cord due to reduced γ-aminobutyric acid (GABA) ergic neurotransmission. During neonatal development a GABAergic shift occurs, which is regulated by the potassium-chloride co-transporter 2 (KCC2) and its oxytocin receptor (OXTR)-dependent phosphorylation at the serine 940 residue (pKCC2). As DNA methylation of <i>Oxtr</i> is sensitive to early life adversity, such as neonatal procedural pain, we hypothesized that neonatal procedural pain reduces <i>Oxtr</i> methylation in the lumbar spinal cord and subsequently prevents the developmental increase in KCC2 and pKCC2. Using a rat model of repetitive neonatal procedural pain, four needle pricks were applied to the left hind paw every day from postnatal day (P)0 to P7. Spinal cord samples were collected at P0 and P10 to assess the levels of KCC2 and pKCC2 via Western blot analysis. Additionally, spinal <i>Oxtr</i> methylation was quantified using bisulfite pyrosequencing. The results indicated that neonatal procedural pain downregulates spinal pKCC2 levels, while KCC2 levels remain unchanged. These findings suggest a disrupted KCC2-dependent chloride outflow and support the hypothesis that neonatal procedural pain disrupts the GABAergic shift. A developmental decrease in pKCC2/KCC2 levels was also observed in the ipsilateral spinal cord of P10 animals, indicating the involvement of other post-translational mechanisms in the developmental regulation of spinal KCC2. Methylation of the <i>Oxtr</i> does not seem to be related to the disturbed GABAergic shift, given that no significant changes in <i>Oxtr</i> promoter methylation were detected. Overall, this study demonstrates that neonatal procedural pain disrupts spinal KCC2 phosphorylation and supports the hypothesis that neonatal procedural pain alters the GABAergic shift in the spinal cord.</p>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/dneu.22993","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Could the Polymorphisms of DOCK4 (rs147636134), SYNGAP1 (rs199759879), and FOXP1 (rs767001715) be the Primary Risk Factors for Bipolar Disorder and Autism Spectrum Disorder?","authors":"Elvan Çiftçi,&nbsp;Nimet Sağlam,&nbsp;Tayfun Gözler,&nbsp;İpek Yüksel,&nbsp;Neriman Kilit,&nbsp;İlknur Bozkurt,&nbsp;Muhsin Konuk,&nbsp;Korkut Ulucan,&nbsp;Nevzat Tarhan","doi":"10.1002/dneu.22995","DOIUrl":"https://doi.org/10.1002/dneu.22995","url":null,"abstract":"<p>Autism spectrum disorder (ASD) and bipolar disorder (BD) are psychiatric diseases that may overlap in common neurodevelopmental and genetic basis. Forkhead Box P1 (FOXP1), Synaptic Ras GTPase-activating protein 1 (SYNGAP1), and Dedicator of Cytokinesis 4 (DOCK4) genes are critical for synaptic plasticity, neuronal communication, and brain development. This study aims to investigate the association of <i>FOXP1</i> (rs767001715), <i>SYNGAP1</i> (rs199759879), and <i>DOCK4</i> (rs147636134) polymorphisms with ASD and BD and to determine the effects of genetic variations on disease pathogenesis in the Turkish population. This study was conducted with a total of 200 participants, including 50 ASD patients, 50 BD patients, and 100 healthy controls. DNA was isolated from peripheral blood samples, and <i>FOXP1</i>, <i>SYNGAP1</i>, and <i>DOCK4</i> polymorphisms were genotyped using real-time PCR. The distribution of genetic variants was compared between patient groups and healthy controls. The chi-square test was applied for statistical analyses. In terms of <i>FOXP1</i> (rs767001715), <i>SYNGAP1</i> (rs199759879), and <i>DOCK4</i> (rs147636134) polymorphisms examined in the study, no statistically significant difference was found between the ASD and BD patient groups and the healthy control group (<i>p</i> &gt; 0.05) in the Turkish population. In addition, it was determined that these variants had allele frequencies compatible with global population data. However, due to the limited sample size, these results cannot be generalized. Further large-scale population analyses and functional studies are needed to investigate the association of these genes with ASD and BD in more detail.</p>","PeriodicalId":11300,"journal":{"name":"Developmental Neurobiology","volume":"85 4","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/dneu.22995","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144814683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}