Steroid 21-hydroxylase deficiency dysregulates essential molecular pathways of metabolism and energy provision.

ABSTRACT: The prevalence of metabolic disease is increased in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. However, the underlying molecular mechanisms causing these problems are not fully understood. We aimed to elucidate the metabolic phenotype and conduct a transcriptomic analysis of a 21-hydroxylase-deficient zebrafish model, to unravel the molecular mechanisms underlying the metabolic pathophysiology of CAH. The morphology, anatomy and transcriptomic analysis of whole larvae, adult liver tissue from 18-month-old cyp21a2-/- zebrafish were compared to those of wild-type siblings. Our main phenotypical finding was that adult mutants were larger, with increased fat deposition compared to controls, in-keeping with the transcriptomic analysis showing the dysregulation of sev

SUBMITTER: Bacila I 

PROVIDER: S-EPMC12452057 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature