Peer-reviewed veterinary case report
Gallbladder disease in dogs linked to CFTR protein problems
By Gookin, Jody L et al.·Published in American journal of physiology. Gastrointestinal and liver physiology·2024·Department of Clinical Sciences, United States·View original on PubMed →
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Original publication title: Acquired dysfunction of CFTR underlies cystic fibrosis-like disease of the canine gallbladder.
- Species:
- dog
Plain-English summary
A dog with a gallbladder mucocele, a condition where mucus builds up and causes problems similar to cystic fibrosis, was studied to understand the underlying causes. Researchers found that the gallbladders of affected dogs had significantly lower levels of a protein called CFTR, which is important for normal mucus secretion. This lack of CFTR function leads to the accumulation of mucus and can cause serious health issues. While the study didn't find specific genetic differences between healthy and affected dogs, it highlighted the importance of CFTR in gallbladder health. Treatment options for gallbladder mucoceles often include surgery to remove the gallbladder.
People also search for: dog gallbladder mucocele symptoms · cystic fibrosis in dogs · dog gallbladder surgery recovery
Abstract
Mucocele formation in dogs is a unique and enigmatic muco-obstructive disease of the gallbladder caused by the amassment of abnormal mucus that bears striking pathological similarity to cystic fibrosis. We investigated the role of cystic fibrosis transmembrane conductance regulatory protein (CFTR) in the pathogenesis of this disease. The location and frequency of disease-associated variants in the coding region of CFTR were compared using whole genome sequence data from 2,642 dogs representing breeds at low-risk, high-risk, or with confirmed disease. Expression, localization, and ion transport activity of CFTR were quantified in control and mucocele gallbladders by NanoString, Western blotting, immunofluorescence imaging, and studies in Ussing chambers. Our results establish a significant loss of CFTR-dependent anion secretion by mucocele gallbladder mucosa. A significantly lower quantity of CFTR protein was demonstrated relative to E-cadherin in mucocele compared with control gallbladder mucosa. Immunofluorescence identified CFTR along the apical membrane of epithelial cells in control gallbladders but not in mucocele gallbladder epithelium. Decreases in mRNA copy number forwere accompanied by decreases in mRNA for the Cl/[Formula: see text] exchanger, Kchannels (,), and vasoactive intestinal polypeptide receptor (), which suggest a driving force for change in secretory function of gallbladder epithelial cells in the pathogenesis of mucocele formation. There were no significant differences in CFTR gene variant frequency, type, or predicted impact comparing low-risk, high-risk, and definitively diagnosed groups of dogs. This study describes a unique, naturally occurring muco-obstructive disease of the canine gallbladder, with uncanny similarity to cystic fibrosis, and driven by the underlying failure of CFTR function.Cystic fibrosis transmembrane conductance regulatory protein (CFTR) genomic variants and expression of mRNA, protein, and electrogenic anion secretory activity of CFTR were characterized in dog gallbladder. Acquired inhibition of CFTR expression by gallbladder epithelium was identified as underpinning a naturally occurring muco-obstructive disease of the dog gallbladder that bears striking pathological similarity to animal models of cystic fibrosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/39041675/