IBRO Neuroscience Reports最新文献

{"title":"Phosphorylated alpha-synuclein distribution in the colonic enteric nervous system of patients with diverticular disease","authors":"François Cossais ,&nbsp;Marie Christin Hörnke ,&nbsp;Katja Schröder ,&nbsp;Ralph Lucius ,&nbsp;Martina Böttner ,&nbsp;Jan-Hendrik Egberts ,&nbsp;Florian Richter ,&nbsp;Thilo Wedel","doi":"10.1016/j.ibneur.2025.02.009","DOIUrl":"10.1016/j.ibneur.2025.02.009","url":null,"abstract":"<div><h3>Background</h3><div>Phosphorylated alpha-synuclein (P-aSyn) is a biomarker for Parkinson’s disease (PD), with potential relevance in intestinal inflammatory disorders.</div></div><div><h3>Objectives</h3><div>This study examines the distribution of P-aSyn in colonic tissues of patients with diverticular disease (DD) compared to age-matched controls.</div></div><div><h3>Methods</h3><div>P-aSyn distribution was analyzed in colon samples of 45 patients with diverticulitis (D-itis), 12 with diverticulosis (D-osis), and 30 controls via immunohistochemistry.</div></div><div><h3>Results</h3><div>P-aSyn immunoreactivity was found along enteric neurons of the myenteric and submucosal plexus in 93.1 % of participants, with similar distribution across D-itis, D-osis, and controls. Elevated reactivity appeared in 16.7 % of D-osis, 19.6 % of D-itis, and 30.0 % of controls.</div></div><div><h3>Conclusion</h3><div>P-aSyn presence in colonic tissue did not significantly differ between DD patients and controls, suggesting that DD-related inflammation does not notably affect P-aSyn expression. Further research is warranted to explore aSyn roles within the enteric nervous system in intestinal inflammatory disorders and their relation with neurodegenerative diseases.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 384-388"},"PeriodicalIF":2.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143550150","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acupuncture protects against ischemic stroke by inhibiting the NF-κB pathway","authors":"Linlin Wang ,&nbsp;Lanrong Chen ,&nbsp;Jiayong Wu ,&nbsp;Chengyan Liu ,&nbsp;Caixia Chi ,&nbsp;Shicong Wang","doi":"10.1016/j.ibneur.2025.02.014","DOIUrl":"10.1016/j.ibneur.2025.02.014","url":null,"abstract":"<div><div>Cerebral ischemia is a leading cause of disability and death worldwide. This study aims to investigate the neuroprotective effects of acupuncture on rats with middle cerebral artery occlusion (MCAO) and elucidate the underlying mechanisms involving the nuclear factor kappa-B (NF-κB) pathway and the NOD-, LRR-, and pyrin domain-containing protein 3 (NLRP3) inflammasome. Acupuncture at specific acupoints, i.e., GV26, GV20, and ST36, was administered to MCAO rats. Infarct volume was measured by TTC (2,3,5-triphenyl-tetrazolium chloride solution) staining. Protein expression levels of NF-κB pathway components and inflammatory markers were determined by western blot and enzyme-linked immunosorbent assay. Terminal deoxynucleotidyl transferase dUTP nick end labeling and hematoxylin-eosin staining were performed to evaluate apoptosis and histopathologic changes. Acupuncture significantly improved neurological function and reduced infarct volume in MCAO rats, as evidenced by decreased TTC staining areas. Meanwhile, acupuncture reduced NF-κB pathway, NLRP3 inflammasome and pro-inflammatory cytokines. Compared with the MCAO group, apoptotic cells were significantly reduced in the acupuncture group, which attenuated the histopathological changes induced by cerebral ischemia, including neuronal cell damage and tissue disorganization. However, application of phorbol 12-myristate 13-acetate partially reversed the beneficial effects of acupuncture, suggesting that the NF-κB pathway plays a key role in mediating the neuroprotective effects of acupuncture. Acupuncture exerts significant neuroprotective effects in MCAO rats, possibly through inhibition of the NF-κB pathway and NLRP3 inflammasome activation. These findings provide insight into the mechanisms of acupuncture in the treatment of ischemic stroke and support its potential therapeutic application.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 370-377"},"PeriodicalIF":2.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143512728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring synergistic effects: Atorvastatin and electrical stimulation in spinal cord injury therapy","authors":"Martina Magurova,&nbsp;Maria Bacova,&nbsp;Stefania Papcunova,&nbsp;Katarina Kiss Bimbova,&nbsp;Tomas Kuruc,&nbsp;Alexandra Kisucka,&nbsp;Lenka Ihnatova,&nbsp;Karolina Kucharova,&nbsp;Nadezda Lukacova,&nbsp;Jan Galik","doi":"10.1016/j.ibneur.2025.02.012","DOIUrl":"10.1016/j.ibneur.2025.02.012","url":null,"abstract":"<div><div>Spinal cord trauma represents a significant clinical challenge, and improving patient outcomes is a main priority for many scientific teams globally. Despite advances in the understanding its pathogenesis, the overall mechanisms occurring in the spinal cord after traumatic injury remain unclear. This study explores the possible synergistic effects of a regenerative therapy that combines electrical stimulation with the anti-inflammatory drug Atorvastatin (ATR) after spinal cord injury (SCI). SCI was induced at the T9 segment under isoflurane anesthesia and applying a compression force of 40 g for 15 minutes. An oscillating field stimulator (OFS) was implanted subcutaneously, delivering a weak electric current (50 µA) that changed polarity every 15 minutes for six weeks to promote axonal growth at the injury site. Female Wistar albino rats were divided into four groups: SCI with non-functional stimulator (SCI + nOFS), SCI with functional stimulator (SCI+OFS), and two groups that received ATR together with stimulator for 7 days after injury (SCI+OFS+ATR, SCI+nOFS+ATR). Behavioral tests (hot-plate test and BBB scale) showed improvement in sensory and motor performance in animals treated with the combination therapy. The protein levels of astrocytes (GFAP), neurofilaments (NF-L), newly sprouting axons (GAP-43), and oligodendrocytes (PLP −1, CNPase) were analysed by Western blot. The results showed increased neurofilaments, newly sprouting axons and oligodendrocytes in groups receiving both individual and combination therapies, with a decrease in their concentrations in the following order: SCI+OFS+ATR, SCI+nOFS+ATR, SCI+OFS, SCI+nOFS. In addition, astrocyte protein levels were lower in the SCI+OFS+ATR group compared with others. Histological analysis showed a significant reduction in white and gray matter after SCI, but less white and gray matter volume loss was found in the groups receiving therapies (SCI+OFS+ATR, SCI+nOFS+ATR, SCI+OFS). These results suggest that the combination of Atorvastatin with OFS stimulation promotes neural recovery after SCI, highlighting the potential of combination therapies in enhancing regenerative outcomes.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 389-399"},"PeriodicalIF":2.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143550151","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A dual-genotype IDH-mutant infiltrating glioma, a real oligoastrocytoma in cerebral hemisphere","authors":"Jing Liu PhD ,&nbsp;Fan Lin PhD ,&nbsp;Yanhua Sun MM ,&nbsp;Xia Liu MM","doi":"10.1016/j.ibneur.2025.02.013","DOIUrl":"10.1016/j.ibneur.2025.02.013","url":null,"abstract":"<div><div>Since the 5th edition of CNS WHO classification. the categorization of oligoastrocytoma has been discontinued. It is now understood that the majority of tumors previously identified as oligoastrocytomas can be reclassified into either astrocytomas or oligodendrogliomas based on molecular characteristics. In this report, we present a rare case of true oligoastrocytoma characterized by the coexistence of two distinct cell types within a single tumor mass, as evidenced in imaging findings and histological examination. The left frontal infiltrating glioma displayed calcification, and histological analysis revealed two morphologically distinct regions corresponding to oligodendroglioma and astrocytoma. Immunohistochemical and molecular pathology analyses, including IDH1, ATRX, TP53 mutations, H3K27me3 status, Tert promoter mutations, and 1p/19q co-deletion, are consistent with oligodendroglioma and astrocytoma, respectively. Post-surgery, the patient opted against radiotherapy and chemotherapy and showed no signs of recurrence at a 4-month follow-up, but was subsequently lost to follow-up. This case prompts questions about the prognosis and potential grading criteria for true oligoastrocytoma. It underscores the need for further case studies to potentially re-establish it as a distinct tumor type in future CNS WHO classifications.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 366-369"},"PeriodicalIF":2.0,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"N-acetyl-L-cysteine mitigates diabetes-induced impairments in sciatic nerve","authors":"Sukhdev S. Kamboj ,&nbsp;Satya P. Sharma ,&nbsp;Wael M.Y. Mohamed ,&nbsp;Rajat Sandhir","doi":"10.1016/j.ibneur.2025.02.006","DOIUrl":"10.1016/j.ibneur.2025.02.006","url":null,"abstract":"<div><div>Diabetic neuropathy is a consequence of long-term hyperglycemia. The emergence of neuronal condition is a result of hyperglycemia-induced oxidative stress. In the present study, streptozotocin-induced diabetes exhibited notable decrease in the levels of phospholipids, glycolipids, gangliosides, and triglycerides in the sciatic nerve. The alterations in lipids resulted in increase in cholesterol to phospholipid ratio in sciatic nerve of diabetic animals. This ratio is crucial and determines the rheological properties of membranes and resulted in substantial reduction in the activity of membrane-bound enzymes; Ca^2 + ATPase and acetylcholinesterase. Histological examination of the cross-section of the sciatic nerve in diabetic mice revealed axonal atrophy and disarrayed myelin sheath. The potential therapeutic impact of N-acetyl Cysteine (NAC), a powerful antioxidant, on a rat model of diabetic neuropathy was evaluated. NAC was administered to rats in drinking water for a period of 8 weeks. The results indicate that administration of NAC restored lipid composition; ratio of cholesterol to phospholipids, the activity of membrane linked enzymes, and improved the structural defects in sciatic nerve. NAC plays protective role against diabetes-induced alterations in lipid composition in sciatic nerve membranes leading to improvement in structure and function of membranes. Overall, the findings suggest NAC as a potential therapeutic strategy in preventing diabetic neuropathy and other diabetic complications.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 512-519"},"PeriodicalIF":2.0,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acupuncture ameliorates inflammation by regulating gut microbiota in acute ischemic stroke","authors":"Haoyue Yan ,&nbsp;Yini Hua ,&nbsp;Jinxia Ni ,&nbsp;Xiaona Wu ,&nbsp;Jingni Xu ,&nbsp;Ziniu Zhang ,&nbsp;Juwei Dong ,&nbsp;Zhihao Xiong ,&nbsp;Lei Yang ,&nbsp;Hongwei Yuan","doi":"10.1016/j.ibneur.2025.02.007","DOIUrl":"10.1016/j.ibneur.2025.02.007","url":null,"abstract":"<div><h3>Background</h3><div>Acute ischemic stroke(AIS) is a major life-threatening disease.Some studies have found that AIS may be related to gut flora and immune responses. Acupuncture is used widely in the treatment of AIS. However its relevant mechanism is unclear enough. Therefore, in this study, we wanted to confirm that acupuncture was treating AIS through gut flora and immune response.</div></div><div><h3>Methods</h3><div>We randomly divided 18 rats into equal three groups, including Sham, Middle Cerebral Artery Occlusion (MCAO) and Acupuncture.Rats in the Acupuncture group for a continuous period of three days after surgery. Neurological deficits were assessed using Longa’s method, and detection of intestinal flora by 16s rRNA gene sequencing, determination of SCFAs by gas chromatography-mass spectrometry, detection of HDAC and inflammatory cytokines by elisa assay, detection of Th17 and Treg cells by flow cytometry and, observation of pathological and morphological changes in brain and colon tissues by HE staining.</div></div><div><h3>Results</h3><div>Acupuncture improved the degree of impaired neurological function in MCAO rats and regulated the type and abundance of intestinal bacteria, increased SCFAs of MCAO rats, decreased HDAC1 and HDAC2, modulated the Th17/Treg imbalance, reduced the level of inflammatory factors in the peripheral blood and altered the pathology of the intestine and brain.</div></div><div><h3>Conclusion</h3><div>Acupuncture repaired neurologic deficits after AIS and may be associated with an immune-inflammatory response mediated by gut microbiota.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 443-452"},"PeriodicalIF":2.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143610199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic variants of ZNF746 and the level of plasma Parkin, PINK1, and ZNF746 proteins in patients with Parkinson's disease","authors":"Jolanta Dorszewska ,&nbsp;Jolanta Florczak-Wyspiańska ,&nbsp;Bartosz Słowikowski ,&nbsp;Wojciech Owecki ,&nbsp;Oliwia Szymanowicz ,&nbsp;Ulyana Goutor ,&nbsp;Mateusz Dezor ,&nbsp;Paweł P. Jagodziński ,&nbsp;Wojciech Kozubski","doi":"10.1016/j.ibneur.2025.01.016","DOIUrl":"10.1016/j.ibneur.2025.01.016","url":null,"abstract":"<div><div>The occurrence of Parkinson's disease (PD) is influenced by a combination of genetic and environmental factors. Genetic variants of PARK2 (<em>PRKN</em>), PARK6 (<em>PINK1</em>), <em>ZNF746,</em> and their protein products are considered parameters related to the occurrence and development of PD. There is an interplay between Parkin, PINK1, and ZNF746 proteins. Inactivation of Parkin or PINK1 proteins results in elevated levels of the neurotoxic ZNF746 protein and loss of dopaminergic neurons. The objective of this study was to investigate the genetic variations in <em>ZNF746</em> and the levels of Parkin, PINK1, and ZNF746 proteins in both PD patients and controls within the Polish population. The study included 125 controls and 100 PD patients. Genetic variants were analyzed using PCR-HRM and sequencing. The concentration of Parkin, PINK1, and ZNF746 proteins in plasma was determined by ELISA. The presence of three new genetic variants of <em>ZNF746</em>, chr7:149492883 G&gt;A, ch7:149492890 G&gt;A, ch7:149492694 G&gt;A was demonstrated and the occurrence of <em>ZNF746</em> c.473 G&gt;A and ch7:149492754 A&gt;G (rs191173107) was confirmed in Polish subjects. There was a significant decrease in Parkin concentration (p &lt; 0.05) observed in PD patients when compared to controls. Reduced levels of Parkin were correlated with a significant rise in the concentration of ZNF746 (p &lt; 0.05) in PD patients when compared with controls. PINK1 protein exhibited no notable alterations in concentration, except in patients who carried the heterozygous <em>ZNF746</em> variant at ch7:149492694 G&gt;A. The study of <em>ZNF746</em> variants combined with the assessment of levels of Parkin, PINK1, and ZNF746 proteins provides fresh insights into our understanding of PD pathogenesis.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 342-349"},"PeriodicalIF":2.0,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143436465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Regulation of non-emotional memory through α1-adrenergic receptors activation: A short review","authors":"Eugénia Correia de Barros","doi":"10.1016/j.ibneur.2025.02.005","DOIUrl":"10.1016/j.ibneur.2025.02.005","url":null,"abstract":"<div><div>The α₁ adrenergic receptors (α₁-ARs) play a central role in the regulation of synaptic plasticity and memory, but their role in non-emotional memory is still poorly understood. This review summarizes recent advances in understanding the functions of α₁-ARs and highlights their contributions to synaptic efficacy, long-term potentiation (LTP), and long-term depression (LTD) in the hippocampus and neocortex. There is evidence that α₁-AR activation occurs through intracellular pathways such as Gq-protein signaling, MAPK, and cAMP cascades. Furthermore, α₁-ARs are emerging as promising therapeutic targets in neurodegenerative diseases, including Alzheimer’s disease (AD), due to their capability to modulate cognition and neuronal plasticity. New insights into positive allosteric modulators (PAMs) that cross the blood-brain barrier provide a potential avenue for safer and more effective therapies. This review highlights the need for further research to improve the understanding of α₁-ARs and their potential for memory enhancement and neuroprotection.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 338-341"},"PeriodicalIF":2.0,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143420584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Research trends and hot spots in obesity-induced pain: A bibliometric analysis of the last 20 years","authors":"Lei Gao ,&nbsp;Yazhou Wen ,&nbsp;Kunlin Guo,&nbsp;Renqi Li,&nbsp;Mao Mao,&nbsp;Shanwu Feng,&nbsp;Xian Wang","doi":"10.1016/j.ibneur.2025.02.001","DOIUrl":"10.1016/j.ibneur.2025.02.001","url":null,"abstract":"<div><h3>Background</h3><div>Obesity can directly lead to allodynia, increase the incidence of chronic pain, and aggravate existing pain. However, the mechanisms underlying obesity-related or obesity-induced pain are still not understood. Herein, we performed a comprehensive bibliometric analysis of obesity-related or obesity-induced pain, aiming to analyze the current trends and hot spots as well as explore the underlying mechanisms.</div></div><div><h3>Methods</h3><div>We searched reviews and articles on obesity-related or obesity-induced pain from 2005 to 2024 via the Web of Science Core Collection (WoSCC) database. We subsequently conducted bibliometric analysis employing WPS Office, a web-based bibliometric analysis platform (<span><span>https://bibliometric.com</span><svg><path></path></svg></span>), VOSviewer, Pajek, and CiteSpace.</div></div><div><h3>Results</h3><div>In total, 347 papers were identified for bibliometric analysis. The country, institution, and journal with the greatest influence were the USA, Albert Einstein College of Medicine, and Headache, respectively. Dr. Lipton RB and Dr. Karppinen J were the top 2 influential authors on the basis of their significant number of publications and citations. The keywords for the latest burst were \"inflammation,\" \"risk,\" \"neuropathic pain,\" \"gene-related peptide,\" \"knee osteoarthritis,\" and \"validation.\" Notably, the article titled \"The association between chronic obesity and pain\" by Okifuji A received the highest number of citations as well as the strongest citation burst. He and colleagues noted a significant correlation between obesity and pain in terms of clinical manifestations, but this connection is indirect and is modulated by certain biomechanical and structural alterations linked to obesity, inflammatory agents, mood disorders, sleep disturbances, and lifestyles.</div></div><div><h3>Conclusion</h3><div>There has been a notable surge in the number of articles published in the last two decades. The investigation into neuroendocrine and neuroimmune mechanisms underlying obesity-related or obesity-induced pain is expected to be a hot spot in the coming years. A potential strategy for treating chronic obesity and pain should pay attention to particular endocrine regulators, inflammatory cytokines, or immune cells that serve as central elements or crucial signaling pathways within this regulatory system.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 311-322"},"PeriodicalIF":2.0,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143395145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association between NLGN4 gene variants and the incidence of autism spectrum disorders in Guilan, Iran","authors":"Sepideh Atefrad ,&nbsp;Aidi Yousefnejad ,&nbsp;Niloofar Faraji ,&nbsp;Parvaneh Keshavarz","doi":"10.1016/j.ibneur.2025.01.018","DOIUrl":"10.1016/j.ibneur.2025.01.018","url":null,"abstract":"<div><div>Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social interaction, communication skills, and repetitive behaviours. This study aimed to investigate the association between variants of the Neuroligin-4 (NLGN4) gene (rs1882260 and rs3810688) and the incidence of ASD in North of Iran in the ASD group (n = 60) and control group (n = 60). DNA was isolated from whole blood, saliva, or hair samples. The targeted variants were genotyped using the Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) technique. Genetic analyses were conducted using SNPAlyze ver. 8.1. Results revealed a significant difference of rs3810688 polymorphism in the NLGN4 gene in both genotypic and allelic frequency distributions between the ASD and control groups (P &lt; 0.05). The GG genotype of rs3810688 polymorphism exhibited a significant association with an elevated risk of ASD in contrast to the CC genotype, as revealed under the co-dominant model (OR=4.2; 95 %CI, 1.25–14.05; P = 0.019). The study illustrated the possible role of rs3810688 polymorphism of NLGN4 in increasing the incidence of ASD among newborns in Guilan province. Also, the G-C haplotype was found to be a protective variant against ASD.</div></div>","PeriodicalId":13195,"journal":{"name":"IBRO Neuroscience Reports","volume":"18 ","pages":"Pages 306-310"},"PeriodicalIF":2.0,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143395146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}