Genetic Investigations of Attention-Deficit/Hyperactivity Disorder
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PROVIDER: PRJNA1114309 | ENA |
REPOSITORIES: ENA
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Project description:Genetic Investigations of Attention-Deficit/Hyperactivity Disorder
| PRJNA1114310 | ENA
Project description:Attention deficit hyperactivity disorder (ADHD) is a common psychiatric condition of children with a prevalence of 5-10% worldwide. Up to 30% of adults with a history of childhood ADHD maintain symptoms in later life; these adult ADHD patients are severely impaired in social and professional life due to persistence of ADHD core symptoms like impulsivity, attention deficit and hyperactivity as well as frequently observed co-morbidities like alcohol and drug abuse, major depression, bipolar and personality disorders. Pharmaceutical treatment options include methylphenidate (MPH), which is amongst others an inhibitor of the dopamine transporter and therefore increases dopamine levels in the brain. However, not all ADHD patients are MPH responders with clinical features to distinguish responders and non-responders being not at hand so far. Likewise, neurobiological reasons for drug response are still elusive. Here, we examined the global transcriptional response of MPH on lymphoblastoid cell lines (LCLs) derived from ADHD patients and unaffected controls.
2014-09-05 | E-GEOD-52889 | biostudies-arrayexpress
Project description:Attention deficit hyperactivity disorder (ADHD) is a common psychiatric condition of children with a prevalence of 5-10% worldwide. Up to 30% of adults with a history of childhood ADHD maintain symptoms in later life; these adult ADHD patients are severely impaired in social and professional life due to persistence of ADHD core symptoms like impulsivity, attention deficit and hyperactivity as well as frequently observed co-morbidities like alcohol and drug abuse, major depression, bipolar and personality disorders. Pharmaceutical treatment options include methylphenidate (MPH), which is amongst others an inhibitor of the dopamine transporter and therefore increases dopamine levels in the brain. However, not all ADHD patients are MPH responders with clinical features to distinguish responders and non-responders being not at hand so far. Likewise, neurobiological reasons for drug response are still elusive.
2014-09-05 | GSE52889 | GEO
Project description:CFTR acts as a potential therapeutic target for attention deficit-hyperactivity disorder
| PRJNA1197996 | ENA
Project description:The occurrence of attention deficit-hyperactivity disorder (ADHD) symptoms in patients with cystic fibrosis (CF) is substantially higher than in the general population, and the cystic fibrosis transmembrane conductance regulator (CFTR) is the pathogenic gene of cystic fibrosis, suggesting the potentially critical role of CFTR in ADHD. Here, we identified three heterozygous missense mutations (p.E217G, p.F316L and p.T1220I) in CFTR, segregating with ADHD in two consanguineous families with 6 affected individuals. Using the zebrafish model, we found that the cftr knockout line displays hyperactive, impulsive-like, and attention deficit-like behaviors, reminiscent of human ADHD patients. Single-cell RNA-seq of 7 dpf larvae identified clusters of neuron cells that were sensitive to cftr, especially, the number of dopaminergic neuron cells decreased in the cftr mutant fish. Bulk RNA-seq and proteomic analysis at the early gastrulation period showed that the expression of nerve system genes was abnormal. Notably, we tried to use CFTR activitors Lumacaftor (VX-809) and Ivacaftor (VX-770) to treat the ADHD zebrafish model (established by per1b mutant), and found enhanced CFTR activity could rescue the ADHD-like behaviors. In brief, we uncover the role of CFTR in ADHD pathogenesis and explore novel diagnoses and therapy for ADHD by targeting CFTR.
2024-12-16 | GSE284214 | GEO
Project description:The present study examined the relationship between genome-wide methylation differences and variations in brain structures involved in the development of attention-deficit hyperactivity disorder (ADHD). We used monozygotic twins discordant for ADHD to identify candidate DNA methylation sites involved in the development of ADHD. Two pairs of MZ twins discordant for ADHD were recruited from the Department of Child and Adolescent Psychological Medicine at the University of Fukui Hospital. The twins were 9-year-old males (pair 1) and 16-year-old females (pair 2). Genomic DNA was collected from saliva samples, and the DNA was then whole-genome amplified, fragmented, and hybridized to the Human MethylationEPIC BeadChip.
2022-01-12 | GSE186339 | GEO
Project description:Attention-deficit/hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder characterized by attentional deficits, hyperactivity, and impulsivity. Despite advances in understanding its genetic and neurobiological underpinnings, comprehensive molecular characterization, particularly at early developmental stages, remains underexplored. This study investigates transcriptomic alterations in the prefrontal cortex (PFC) and striatum (STR) of a postnatal ADHD mouse model induced by 6-hydroxydopamine (6-OHDA), which selectively eliminates dopaminergic neurons. Employing bulk RNA sequencing (RNA-seq) coupled with weighted gene co-expression network analysis (WGCNA), we identified 369 DEGs in the PFC, 493 DEGs in the STR, and 32 modules in WGCNA, uncovering distinct expression profiles associated with ADHD. Functional enrichment analyses identified that PFC-DEGs were involved in PFC development, plasma membrane signaling, and transcriptional regulation. STR-DEGs were associated with STR development, locomotion, extracellular matrix, and response to amphetamine. Notably, we identified significant overlaps between PFC- and STR-DEGs and genes linked to ADHD, autism spectrum disorders (ASD), schizophrenia (SCZ), and bipolar disorder (BD). Co-expression network analyses identified module-specific enrichments related to neurodevelopmental and cognitive functions, highlighting the roles of development, synaptic signaling, metabolism, immunity, and transcription in the pathophysiology of ADHD. These findings demonstrate the intricate gene expressions and co-expression networks underlying ADHD, providing deeper insights into the molecular mechanisms.
2026-07-24 | GSE277931 | GEO
Project description:Genome-wide DNA methylation analysis of hippocampal tissue in a murine model of Attention Deficit-Hyperactivity Disorder
| PRJNA1230752 | ENA
Project description:Attention Deficit-Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder with a prevalence around 5% in children and adolescents and 2.5% in adults. Recent reports using GWAS approaches have identified several genetic risk loci for this disorder. However, the epigenetic influence of extrinsic factors during pregnancy or the exposure to environmental factors during childhood, on the onset of the disorder remains unclear. This question has been addressed by analyzing blood or saliva samples from ADHD patients or by postmortem analysis. The aim of this study was to determine differential patterns in DNA methylation in fresh hippocampal samples using a murine model of ADHD. We analyzed the genome-wide pattern of differentially methylated CpG sites using the Illumina Infinium Mouse Methylation BeadChip in fresh hippocampal samples from the prenatal nicotine exposure (PNE) mouse model of ADHD and control animals. Our analysis revealed 218 DMPs including genes associated with growth factors signaling, such as adhesion G protein-coupled receptor B2 (ADGRB2), leukemia inhibitory factor receptor (LIFR) and erb-b2 receptor tyrosine kinase 3 (ERBB3) involved in synaptogenesis, proliferation, and differentiation of neural stem cells. The functional gene enrichment analysis of differentially methylated positions (DMPs) revealed the nervous system development as the biological process with highest enrichment factor. In addition, the GO and KEEG enrichment analysis of 113 differentially methylated regions (DMR) revealed several loci associated with the positive regulation of Hippo signaling (involved in neuronal development) in PNE samples. In addition, our results revealed a DMP previously associated to ADHD patients supporting the PNE murine model of ADHD. These results are relevant in terms of the validation of PNE model of ADHD and for the identification of epigenetic markers of the disorder in humans. In addition, our results are relevant for the characterization of the cellular and molecular mechanisms underlying the ADHD, currently unknown.
2025-06-16 | GSE290914 | GEO
Project description:RNA-sequencing data and whole transcriptome analysis from CDH2 knock-in mice, modeling attention-deficit hyperactivity disorder (ADHD)
| PRJNA757439 | ENA