NEWCASTLE, United Kingdom — Scientists at Newcastle University report the discovery of a new hereditary disease called TULP3-related ciliopathy. Caused by a faulty inherited gene, this condition can result in either liver or kidney failure among both adults and adolescents.
Both kidney and liver failure, of course, can stem from a number of different causes. Organ failure can be life-threatening if left untreated, but many patients find it difficult to get an accurate diagnosis. As one can imagine, this makes settling upon the best possible treatment option near impossible.
Study authors have found that a faulty gene is the catalyst for increased fibrosis in both the liver and kidney. More fibrosis often results in the patient needing a transplant.
“Our finding has a huge implication for better diagnosis and management of kidney and liver disease in some patients,” says Professor John Sayer, Deputy Dean of Clinical Medicine at Newcastle, in a university release. “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.”
High risk of needing a transplant
Researchers reviewed each studied patient’s clinical symptoms, and also collected biopsies and genetic sequencing data. Ultimately, the team identified 15 patients from eight families as having the new disease. They then utilized urine collected from those 15 patients to grow cells in a lab setting. Analysis of those lab-grown cells helped the team investigate the precise defect behind TULP3-related ciliopathy.
Over half of all study participants needed a liver or kidney transplant. Before this work, the original cause for their organ failure was a mystery.
“We were surprised at how many patients we were able to identify with TULP3-related ciliopathy and this would suggest that the condition is prevalent within those with liver and kidney failure,” Prof. Sayer explains. “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.”
“Finding a genetic cause of liver or kidney failure has huge implications for other family members, especially if they are wishing to donate a kidney to the patient,” the researcher adds.
Finding the real cause of decades-long illnesses
Moving forward, the team at NU will keep working on this topic. They plan to analyze cell lines taken from relevant patients, and test more potential new treatments for TULP3-related ciliopathy.
Linda Turnbull, one of the 15 patients identified as having the new condition, received a new liver decades ago. Now in her 60s, doctors diagnosed Linda with liver failure at just 11 years-old. All these years later, she finally has a better idea of what happened.
“It is brilliant to finally have an answer to my life-long questions: Why has this happened to me and why do I have this condition,” she comments. “It’s fantastic that this research has been led in Newcastle and it means that people in the future will have information regarding their condition and how best to treat it.”
The study is published in the American Journal of Human Genetics.
