revealed that a faulty gene is the catalyst for increased fibrosis in the liver and kidneys, often leading to the need for a transplant.
Ciliopathy associated with TULP3
“Our findings have huge implications for better diagnosis and management of kidney and liver disease in some patients,” said Professor John Sayer, Associate Dean of Clinical Medicine at Newcastle.
Sayer added: “What we can do now is provide some patients with an accurate diagnosis, allowing treatment to be tailored to their needs for the best possible outcome.
In the study, the experts looked at clinical symptoms, liver biopsies and genetic sequencing from the scores of the patients, in which a total of 15 patients from 8 families were identified as having the disease. this new.
Urine samples from these patients were used for laboratory cell culture and then investigated to pinpoint the defect causing TULP3-associated ciliopathy.
More than half of the patients in the study received a liver or kidney transplant because their condition had significantly deteriorated.
In these patients, the primary cause of their organ failure was unknown until study.
“We were surprised by the number of patients in which we were able to identify TULP3-associated ciliopathy, and this suggests that the condition is common in people with liver and kidney failure,” said Professor Sayer. .
“We hope to be able to provide accurate diagnoses 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 prevent further problems.” get to the bottom of the disease.
“Finding the genetic cause of liver or kidney failure has huge implications for other family members, especially if they are looking to donate a kidney to a patient.”
The team will now work with cell lines taken from patients to study the disease process in more detail and test potential treatments for TULP3-associated myopathy.