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CFTR acts as a potential therapeutic target for attention deficit-hyperactivity disorder
Qianqian Li1, Ting Wang2, Jing Li2
1Department of Psychological Counseling, Second Affiliated Hospital of Chongqing Medical University, Chongqing, China. qianqianli100@vip.sina.com.
Scientific Reports
|April 21, 2025
Summary
Genetic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are linked to attention deficit-hyperactivity disorder (ADHD) symptoms. Targeting CFTR may offer new therapeutic strategies for ADHD.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- Attention deficit-hyperactivity disorder (ADHD) symptoms are more prevalent in cystic fibrosis (CF) patients.
- The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for CF, is investigated for its potential role in ADHD.
Purpose of the Study:
- To explore the link between CFTR gene variants and ADHD.
- To investigate the function of CFTR in ADHD pathogenesis using a zebrafish model.
- To assess the therapeutic potential of CFTR modulators for ADHD.
Main Methods:
- Genetic analysis of CFTR variants in families with ADHD.
- Phenotypic characterization of cftr knockout zebrafish for ADHD-like behaviors.
- Single-cell and bulk RNA sequencing, and proteomic analysis in zebrafish larvae.
- Pharmacological intervention using CFTR modulators (Lumacaftor and Ivacaftor) in a zebrafish ADHD model.
Main Results:
- Three heterozygous missense CFTR variants co-segregated with ADHD in two families.
- Cftr knockout zebrafish exhibited hyperactivity, impulsivity, and attention deficits.
- CFTR deficiency affected dopaminergic neuron development and nervous system gene expression.
- CFTR modulator treatment ameliorated ADHD-like behaviors in zebrafish.
Conclusions:
- CFTR plays a potential role in ADHD pathogenesis.
- CFTR variants may contribute to ADHD development.
- Targeting CFTR presents a novel therapeutic avenue for ADHD.
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