A canine gallbladder disease that involves the accumulation of abnormal mucus similar to that seen in human cystic fibrosis (CF) patients is caused by improper expression of the gene associated with CF in humans.
North Carolina State UniversityJul 29 2024 A canine gallbladder disease that involves the accumulation of abnormal mucus similar to that seen in human cystic fibrosis patients is caused by improper expression of the gene associated with CF in humans. The finding could have implications for human CF patients as well as for animal models of CF.
We really only started seeing this disease about 20 years ago in a handful of breeds. What captured my attention was how similar these gallbladders looked to those in animal models of CF." The thick immobile mucus associated with CF in humans stems from a defect in a gene called CFTR, which is responsible for depositing channels in epithelial cells that then secrete chloride and water. These channels lubricate the cell surface, keeping mucus moist and moveable. In CF, the absence of these lubricating channels means that the mucus dehydrates and clogs lungs and intestines. But in human patients, gallbladders don't fill up with dehydrated mucus.
Gookin performed whole genome sequencing on blood collected from eight Shetland sheepdogs with gallbladder mucocele formation and compared the location and frequency of variants in the CFTR gene to 115 dogs from 12 breeds at high risk for mucocele formation and 2,519 dogs from 340 breeds considered low risk for mucocele formation. There were no significant differences between the groups.
Emerging Disease Fibrosis Gene Genome Medicine Mucocele Mutation Research Veterinary
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