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

ABSTRACT: The prevalence of attention deficit-hyperactivity disorder (ADHD) symptoms among individuals with cystic fibrosis (CF) is significantly elevated compared to the general population. Given that the cystic fibrosis transmembrane conductance regulator (CFTR) is the causative gene for cystic fibrosis, this raises the possibility of CFTR playing a crucial role in ADHD. In our study, three heterozygous missense variants (p.E217G, p.F316L, and p.T1220I) were detected in the CFTR gene, which co-segregate with ADHD in two consanguineous families, impacting a total of six family members. Through the utilization of a zebrafish model, it was observed that the cftr knockout line exhibited behaviors akin to hyperactivity, impulsivity, and attention deficits, mirroring the symptoms seen in human ADHD pati

SUBMITTER: Li Q 

PROVIDER: S-EPMC12012117 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature