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CFTR acts as a potential therapeutic target for attention deficit-hyperactivity disorder

ABSTRACT: CFTR acts as a potential therapeutic target for attention deficit-hyperactivity disorder

PROVIDER: PRJNA1197996 | ENA |

REPOSITORIES: ENA

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CFTR acts as a potential therapeutic target for attention deficit-hyperactivity disorder

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

Genetic Investigations of Attention-Deficit/Hyperactivity Disorder

Project description:Genetic Investigations of Attention-Deficit/Hyperactivity Disorder

| PRJNA1114309 | ENA

Genetic Investigations of Attention-Deficit/Hyperactivity Disorder

Project description:Genetic Investigations of Attention-Deficit/Hyperactivity Disorder

| PRJNA1114310 | ENA

Effect of methylphenidate on gene expression profiles of Attention Deficit Hyperactivity Disorder patients and unaffected controls.

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

Effect of methylphenidate on gene expression profiles of Attention Deficit Hyperactivity Disorder patients and unaffected controls.

2014-09-05 | GSE52889 | GEO

Association of epigenetic differences nominated by monozygotic twins discordant for attention-deficit hyperactivity disorder with their brain structures

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

Association of epigenetic differences nominated by monozygotic twins discordant for attention-deficit hyperactivity disorder with their brain structures

Project description:Association of epigenetic differences nominated by monozygotic twins discordant for attention-deficit hyperactivity disorder with their brain structures

| PRJNA773423 | ENA

RNA-sequencing data and whole transcriptome analysis from CDH2 knock-in mice, modeling attention-deficit hyperactivity disorder (ADHD)

Project description:RNA-sequencing data and whole transcriptome analysis from CDH2 knock-in mice, modeling attention-deficit hyperactivity disorder (ADHD)

| PRJNA757439 | ENA

Gene expression correlated with inattention and hyperactivity/impulsivity rating scales in Tourette syndrome

Project description:Inattention, impulsivity and hyperactivity are the primary behaviors associated with Attention Deficit / Hyperactivity Disorder (ADHD). Previous studies proved that peripheral blood gene expression signature could mirror central nervous system disease. This study determined if gene expression in blood correlated with inattention, hyperactivity/impulsivity rating scales and/or both in subjects with Tourette syndrome (TS).

2014-06-30 | GSE30470 | GEO

Biomarker Discovery in Attention Deficit Hyperactivity Disorder: RNA sequencing of Whole Blood in Discordant Twin and Case-Controlled Cohorts

Project description:Biomarker Discovery in Attention Deficit Hyperactivity Disorder: RNA sequencing of Whole Blood in Discordant Twin and Case-Controlled Cohorts

| PRJNA667703 | ENA

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