International Journal of Developmental Neuroscience最新文献

{"title":"A review article on the development of dopaminergic neurons and establishment of dopaminergic neuron–based in vitro models by using immortal cell lines or stem cells to study and treat Parkinson's disease","authors":"Azize Yasemin Göksu","doi":"10.1002/jdn.10383","DOIUrl":"10.1002/jdn.10383","url":null,"abstract":"<p>The primary pathological hallmark of Parkinson's disease (PD) is the degeneration of dopaminergic (DA) neurons in the substantia nigra pars compacta, a critical midbrain region. <i>In vitro</i> models based on DA neurons provide a powerful platform for investigating the cellular and molecular mechanisms of PD and testing novel therapeutic strategies. A deep understanding of DA neuron development, including the signalling pathways and transcription factors involved, is essential for advancing PD research. This article first explores the differentiation and maturation processes of DA neurons in the midbrain, detailing the relevant signalling pathways. It then compares various <i>in vitro</i> models, including primary cells, immortalized cell lines, and stem cell-based models, focusing on the advantages and limitations of each. Special attention is given to the role of immortalized and stem cell models in PD research. This review aims to guide researchers in selecting the most appropriate model for their specific research goals. Ethical considerations and clinical implications of using stem cells in PD research are also discussed.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"817-842"},"PeriodicalIF":1.7,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390381","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":"Evaluating the potential effects of apigenin on memory, anxiety, and social interaction amelioration after social isolation stress","authors":"Ali Mohammadkhanizadeh,&nbsp;Yasaman Hosseini,&nbsp;Farnaz Nikbakht,&nbsp;Mohammadreza Parvizi,&nbsp;Fatemeh Khodabandehloo","doi":"10.1002/jdn.10380","DOIUrl":"10.1002/jdn.10380","url":null,"abstract":"<p>Vigorous research confirmed the anti-inflammatory, antioxidant, and antidementia effects of apigenin (Api). The present study evaluated the beneficial impacts of Api administration on behaviour, brain-derived neurotrophic factor (BDNF), Interleukin <i>6</i> (IL-6), oxidative stress, and inflammation induced by social isolation (SI) stress in rats. For this purpose, rats underwent a 28-day SI period followed by a 4-week oral Api treatment (50 mg/kg/day, PO). On Day 56, behaviour tests were performed, including an elevated plus maze (EPM), Morris water maze (MWM), and three-chamber social tests. The oxidative stress markers, IL-6, and BDNF levels were measured in the hippocampus. Our results showed that SI stress caused an increase in anxiety and a decrease in spatial memory, sociability, and social preference index. In addition, SI stress increased hippocampal levels of IL-6 and malondialdehyde (MDA) content, whereas it reduced the hippocampal BDNF level and superoxide dismutase (SOD) activities. Our study indicated that Api attenuates anxiety and causes improvements in spatial memory and social interaction. These desirable effects of Api might be related to amelioration in the BDNF level, IL-6, and oxidative stress biomarkers in the hippocampus.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"894-904"},"PeriodicalIF":1.7,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142375408","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":"Seizure recurrence following the first unprovoked seizure: Risk factors among children in UAE","authors":"Dina Amin Saleh,&nbsp;Abeera Hassan","doi":"10.1002/jdn.10382","DOIUrl":"10.1002/jdn.10382","url":null,"abstract":"<p>In a retrospective study of paediatric and adolescent patients in Abu Dhabi, UAE, who experienced their first unprovoked seizure between March 2016 and March 2020, with a minimum one-year follow-up, we identified significant risk factors associated with seizure recurrence. Among 317 patients, 96.2% experienced seizure recurrence, with the majority (68.8%) occurring within the first 6-month follow-up period. Notable risk factors for recurrence included focal seizures, symptomatic seizure causes, abnormal initial electroencephalogram (EEG) findings, abnormal brain magnetic resonance imaging results, and the presence of neurological disorders. Interestingly, the type of epileptiform activity in the initial EEG did not predict recurrence risk. Over a 3-year period, the overall recurrence risk was 98.4%, particularly higher in cases with symptomatic seizures compared to idiopathic (genetic) ones. These findings underscore the importance of vigilant monitoring, particularly in the early post-seizure follow-up period, and advocate for initial EEG assessments, especially in cases of remote symptomatic first unprovoked seizures.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"905-917"},"PeriodicalIF":1.7,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371785","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":"The neuropsychology of early childhood and infancy","authors":"Kalliopi Megari,&nbsp;Vasiliki Miliadi","doi":"10.1002/jdn.10381","DOIUrl":"10.1002/jdn.10381","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Piaget's theory emphasizes the biological structures children utilize to make sense of their environment and based on those experiences become able to adapt. Many factors can intervene in the gradual and complex process of development, causing an array of issues both acute and chronic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Several studies have found that disability in the early months is a strong predictor of cognitive impairment in preschool. The presence of early functional anomalies may represent developmental delay and/or neurodevelopmental disorders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Understanding the risk factors and detecting such signs early on is important to prevent or minimize later cognitive, behavioral, and psychosocial problems. The study aims to emphasize how critical the early years are to a child's future cognitive, physical, emotional, and social development as well as their overall well-being.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>In addition, the fact that crucial developmental stages can be hampered or obstructed by a variety of factors is highlighted.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"807-816"},"PeriodicalIF":1.7,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346140","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":"Assessment of BDNF and sialic acid levels in children with ADHD: Relation of chronotypes","authors":"Esra Demirci,&nbsp;Melike Kevser Gul,&nbsp;Elif Funda Sener,&nbsp;Muge Gulcihan Onal,&nbsp;Fatma Dal","doi":"10.1002/jdn.10376","DOIUrl":"10.1002/jdn.10376","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Evaluation of the biomarkers and their relations with sleep in attention deficit hyperactivity disorder (ADHD) is important for understanding the impairments in cognitive functioning. In this study, we aimed to investigate the brain-derived neurotrophic factor (BDNF) and sialic acid (Sia) levels, and their possible relations with chronotypes in ADHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 100 drug-naive children with ADHD and 74 healthy children as controls. Conners' Parent Rating Scale-Revised (CPRS-R) scores were used for the severity assessment. Morningness Eveningness Questionnaire (MEQ) was used to determine the chronotypes of participants. ELISA kits were used for the assessment of BDNF and Sia plasma levels.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Levels of BDNF and Sia were found to be statistically significantly higher in the ADHD group compared to healthy children (<i>p</i> &lt; 0.001, <i>p</i> &lt; 0.001, respectively). BDNF and Sia levels were found to be higher in the ADHD group with eveningness chronotype (<i>p</i> = 0.045, <i>p</i> = 0.038). The binary logistic regression model was statistically significant (<i>p</i> = 0.033), higher BDNF and Sia levels were assessed as predictive factors for the diagnosis of ADHD. Also, eveningness chronotype was found as a predictive factor of BDNF and Sia levels in ADHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The results indicate that BDNF and Sia levels, which are related to cognitive functions and sleep, increase with the age of ADHD. Eveningness chronotype, connected with the severity of ADHD, is related to BDNF and Sia levels. There is a need for further studies to confirm these results.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"857-866"},"PeriodicalIF":1.7,"publicationDate":"2024-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286385","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":"Novel variant related to SATB2-associated syndrome","authors":"Nada Benyahya,&nbsp;Nada Amllal,&nbsp;Siham Chafai Elalaoui,&nbsp;Mustapha El Alloussi,&nbsp;Abdelaziz Sefiani,&nbsp;Jaber Lyahyai","doi":"10.1002/jdn.10379","DOIUrl":"10.1002/jdn.10379","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>SATB2-associated syndrome (SAS) also known as Glass syndrome is characterized by/intellectual disability and/or developmental delay coupled with absent or limited speech development. Other abnormalities can be noticed including craniofacial anomalies such as palatal and dental anomalies, behavioural problems and dysmorphic features. It is associated with pathogenic monoallelic variants of the SATB2 gene known to play a key role in brain, dental and jaw development. As phenotype could be unspecific and progressive, clinical diagnostic is difficult. Therefore, genetic testing is mandatory to confirm the disease. Herein, we report clinical and molecular data of a 13-year-old girl with psychomotor developmental delay and behavioural problems.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods and results</h3>\u0000 \u0000 <p>Next-generation sequencing detected the novel monoallelic frameshift variant SATB2(NM_001172509.2): c.1135del(p.Gln379Lysfs*34). Currently, this variant is classified as likely pathogenic according to the American College of Medical Genetics. Sanger sequencing was used to validate the presence of the detected variant in the patient and confirm de novo character of this latter.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Through this work, we emphasize the value of next-generation sequencing for a precise molecular diagnosis, an adapted clinical management of patients and an adequate genetic counselling of their families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"1006-1009"},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286388","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":"Decreased levels of L-selectin and platelet-endothelial cell adhesion molecule-1 in children with autism spectrum disorder","authors":"Semiha Cömertoğlu Arslan,&nbsp;Feyzullah Necati Arslan,&nbsp;Hatice Altun,&nbsp;Dilan Taş,&nbsp;Elif Milhan Islah,&nbsp;Muhammed Seyithanoğlu,&nbsp;Adem Doğaner","doi":"10.1002/jdn.10377","DOIUrl":"10.1002/jdn.10377","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to ascertain the serum levels of selectins (E, L, P) and platelet-endothelial adhesion molecule-1 (PECAM-1) in preschool children with autism spectrum disorder (ASD) and to establish a comparison with the levels observed in healthy controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 34 children aged 2–7 years diagnosed with ASD (ASD group) and 34 randomly selected healthy children matched for age and sex to the ASD group. The children were free of any genetic or physical disease, clinically active infection, or medication use. The sociodemographic data form was completed by all parents. The Childhood Autism Rating Scale (CARS) and the Autism Behavior Checklist (ABC) were administered to the patient group, and the Aberrant Behavior Checklist (AbBC) was completed by the families of all children. Serum selectin (E, L, P) and PECAM-1 levels were measured using enzyme-linked immunosorbent assay (ELISA) kits.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results showed that the levels of both L-selectin (<i>p</i> = 0.007) and PECAM-1 (<i>p</i> = 0.019) were significantly lower in the ASD group than in the control group. No significant difference was observed between the groups concerning E-selectin and P-selectin levels (<i>p</i> &gt; 0.05). It was observed that P-selectin variables were statistically significant in predicting the presence of ASD (<i>p</i> = 0.019). A remarkable inverse correlation was found between the AbBC irritability subscale score and L-selectin (r = −0.296, <i>p</i> = 0.014) and PECAM-1 (r = −0.276, <i>p</i> = 0. 023); the AbBC Lethargy-Social Withdrawal subscale score and E-Selectin (r = −0.239, <i>p</i> = 0.049), L-Selectin (r = −0.297, <i>p</i> = 0.014) and PECAM-1 (r = −0.264, <i>p</i> = 0.029); L-Selectin levels and the AbBC <b>stereotypic behavior</b> subscale (r = −0.248, <i>p</i> = 0.042). No statistically significant relationship was observed between selectins (E, L, P) and PECAM-1 levels and CARS scale, ABC subscale or total scores and age variables (<i>p</i> &gt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These study results suggest that L-selectin, P-selectin and PECAM-1 may play a role in the pathophysiology of ASD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"867-876"},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286386","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":"Long-lasting behavioral and neurochemical effects of early-life environmental enrichment in rats submitted to neonatal morphine administration","authors":"Matheus Gabriel de Freitas Nascimento,&nbsp;Josimar Macedo de Castro,&nbsp;Liciane Fernandes Medeiros,&nbsp;Khetrüin Jordana Fiuza,&nbsp;Thais Collioni de Oliveira,&nbsp;Iala Thais de Sousa Morais,&nbsp;Tenille Dal Bosco,&nbsp;Wolnei Caumo,&nbsp;Dirson J. Stein,&nbsp;Iraci L. S. Torres","doi":"10.1002/jdn.10378","DOIUrl":"10.1002/jdn.10378","url":null,"abstract":"<p>The present study examined the medium- and long-term effects of early environmental enrichment (EE) on neuromotor, nociceptive, cognitive, behavioral, and neurochemical parameters in newborn rats repeatedly exposed to morphine. The study employed 90 Wistar rats: 10 adult nulliparous females and 80 male pups. Litter was split into standard and EE housing. Following, half of each litter received saline (S) or morphine (M) injections, resulting in four groups: SC + S, EE + S, SC + M, and EE + M. EE was applied from PND1 to PND21, while morphine or saline was given daily (5 μg/s.c.) from PND8 to PND14. Neuromotor development was similar between groups. In the OF test, morphine reduced outer and total crossings, whereas EE increased inner crossings and rearings. Adult rats showed a decrease in outer and total crossings and grooming and an increase in rearing. EE increased the number of protected and unprotected head dipping. Adult rats showed an increase in protected head dipping. Adult rats showed a lower recognition index, and, when exposed to EE, a lower anxiety index and analgesia. EE increased brainstem and hippocampal BDNF levels. Adult rats had increased hypothalamus, spinal cord, and brainstem BDNF levels, an increase in the spinal cord, and decreased hypothalamus TNF-α levels. This study demonstrated that early-life EE raises BDNF levels in the brainstem and hippocampus of rats and modifies their behaviors (such as nociception, exploration, and anxiety) in a state-dependent manner (morphine and age).</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 8","pages":"877-893"},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286387","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":"Prediction of individual performance and verbal intelligence scores from resting-state fMRI in children and adolescents","authors":"Ningning He,&nbsp;Chao Kou","doi":"10.1002/jdn.10375","DOIUrl":"10.1002/jdn.10375","url":null,"abstract":"<p>The neuroimaging basis of intelligence remains elusive; however, there is a growing body of research employing connectome-based predictive modeling to estimate individual intelligence scores, aiming to identify the optimal set of neuroimaging features for accurately predicting an individual's cognitive abilities. Compared to adults, the disparities in cognitive performance among children and adolescents are more likely to captivate individuals' interest and attention. Limited research has been dedicated to exploring neuroimaging markers of intelligence specifically in the pediatric population. In this study, we utilized resting-state functional magnetic resonance imaging (fMRI) and intelligence quotient (IQ) scores of 170 healthy children and adolescents obtained from a public database to identify brain functional connectivity markers associated with individual intellectual behavior. Initially, we extracted and summarized relevant resting-state features from whole-brain or functional network connectivity that were most pertinent to IQ scores. Subsequently, these features were employed to establish prediction models for both performance and verbal IQ scores. Within a 10-fold cross-validation framework, our findings revealed that prediction models based on whole-brain functional connectivity effectively predicted performance IQ scores(\u0000<span></span><math>\u0000 <mi>R</mi>\u0000 <mo>=</mo>\u0000 <mn>0.35</mn>\u0000 <mo>,</mo>\u0000 <mi>P</mi>\u0000 <mo>=</mo>\u0000 <mn>2.2</mn>\u0000 <mo>×</mo>\u0000 <msup>\u0000 <mn>10</mn>\u0000 <mrow>\u0000 <mo>−</mo>\u0000 <mn>4</mn>\u0000 </mrow>\u0000 </msup></math>) but not verbal IQ scores(\u0000<span></span><math>\u0000 <mi>R</mi>\u0000 <mo>=</mo>\u0000 <mn>0.12</mn>\u0000 <mo>,</mo>\u0000 <mi>P</mi>\u0000 <mo>=</mo>\u0000 <mn>0.20</mn></math>). Results of prediction models based on brain functional network connectivity further demonstrated the exceptional predictive ability of the default mode network (DMN) and fronto-parietal task control network (FTPN) for performance IQ scores (\u0000<span></span><math>\u0000 <mi>R</mi>\u0000 <mo>=</mo>\u0000 <mn>0.71</mn>\u0000 <mo>,</mo>\u0000 <mi>P</mi>\u0000 <mo>=</mo>\u0000 <mn>2.2</mn>\u0000 <mo>×</mo>\u0000 <msup>\u0000 <mn>10</mn>\u0000 <mrow>\u0000 <mo>−</mo>\u0000 <mn>18</mn>\u0000 </mrow>\u0000 </msup></math>). The above findings have also been validated using an independent dataset. Our findings suggest that the performance IQ of children and adolescents primarily relies on the connectivity of brain regions associated with DMN and FTPN. Moreover, variations in intellectual performance during childhood and adolescences are closely linked to alterations in brain functional network connectivity.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"779-790"},"PeriodicalIF":1.7,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265515","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 pilot study: Examining cytoskeleton gene expression profiles in Pakistani children with autism spectrum disorder","authors":"Sana Malik,&nbsp;Syed Aoun Ali,&nbsp;Ahmed Murtaza Mehdi,&nbsp;Amir Raza,&nbsp;Shahid Bashir,&nbsp;Deeba Noreen Baig","doi":"10.1002/jdn.10372","DOIUrl":"10.1002/jdn.10372","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Finding effective pharmacological interventions to address the complex array of neurodevelopmental disorders is currently an urgent imperative within the scientific community as these conditions present significant challenges for patients and their families, often impacting cognitive, emotional, and social development. In this study, we aimed to explore non-invasive method to diagnose autism spectrum disorders (ASD) within Pakistan children population and to identify clinical drugs for its treatment.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Aims&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;The current report outlines a comprehensive bidirectional investigation showcasing the successful utilization of saliva samples to quantify the expression patterns of profilins (&lt;i&gt;PFN1&lt;/i&gt;, &lt;i&gt;2&lt;/i&gt;, and &lt;i&gt;3&lt;/i&gt;); and ERM (ezrin, radixin, and moesin) proteins; and additionally &lt;i&gt;moesin pseudogene 1&lt;/i&gt; and &lt;i&gt;moesin pseudogene 1 antisense (MSNP1AS)&lt;/i&gt;. Subsequently, these expression profiles were employed to forecast interactions between drugs and genes in children diagnosed with ASD.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;This study sought to delve into the intricate gene expression profiles using qualitative polymerase chain reaction of &lt;i&gt;profilin&lt;/i&gt; isoforms (&lt;i&gt;PFN1&lt;/i&gt;, &lt;i&gt;2&lt;/i&gt;, and &lt;i&gt;3&lt;/i&gt;) and &lt;i&gt;ERM&lt;/i&gt; genes extracted from saliva samples obtained from children diagnosed with ASD. Through this analysis, we aimed to elucidate potential molecular mechanisms underlying ASD pathogenesis, shedding light on novel biomarkers and therapeutic targets for this complex neurological condition. (&lt;i&gt;n&lt;/i&gt; = 22). Subsequently, we implemented a diagnostic model utilizing sparse partial least squares discriminant analysis (sPLS-DA) to predict drugs against our genes of interest. Furthermore, connectivity maps were developed to illustrate the predicted associations of 24 drugs with the genes expression.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Our study results showed varied expression profile of cytoskeleton linked genes. Similarly, sPLS-DA model precisely predicted drug to genes response. Sixteen of the examined drugs had significant positive correlations with the expression of the targeted genes whereas eight of the predicted drugs had shown negative correlations.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Here we report the role of cytoskeleton linked genes (&lt;i&gt;PFN&lt;/i&gt; and &lt;i&gt;ERM&lt;/i&gt;) in co-relation to ASD. Furthermore, variable yet significant quantitative expression of these genes successfully predicted drug–gene interactions as shown with the help of ","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"84 7","pages":"769-778"},"PeriodicalIF":1.7,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142265512","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}