A study published in the American Journal of Human Genetics has identified that progressive liver, kidney, and heart fibrosis may be related to TULP3 mutations in some patients.  

Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle University, said: “Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients. What we are now able to do is give some patients a precise diagnosis, which allows their treatment to be tailored to their needs for the best possible outcome.”

The researchers identified bi-allelic variants in TULP3 in 15 individuals from eight unrelated families. They also conducted in vitro and in vivo experiments which showed that variants in TULP3 as a monogenic cause for a clinically distinct disorder of progressive degenerative liver fibrosis with variable fibrocystic kidney disease and hypertrophic cardiomyopathy. The study used whole-exome sequencing or targeted exome sequencing including >600 genes with a known or hypothesized association to cystic kidney disease and other ciliopathies and kidney disorders to detect pathogenic variants in a cohort of individuals affected with fibrocystic liver/kidney disease or other ciliopathy-associated diseases.

“We hope to provide a proper diagnosis for many more families in the future. This work is a reminder that it is always worth investigating the underlying reasons for kidney or liver failure to get to the bottom of the condition,” said Professor Sayer.

More information on Tubby-like protein-3 (Tulp3) may be found here.

The complete study may be read here.


Photo by: Emw, CC BY-SA 3.0