JUN 01, 2022 1:49 AM PDT

Newly ID'ed Disease Explains Some Liver & Kidney Dysfunction

WRITTEN BY: Carmen Leitch

Some people with unexplained liver and kidney issues may now have an answer. Researchers have found that mutations in a gene called TULP3 can cause kidney and liver failure, leading to the establishment of TULP3-related ciliopathy. Kidney and liver failure may occur for unknown reasons, making the conditions difficult to treat. When there are mutations in TULP3, fibrosis seems to be promoted in the liver and kidney. People with this condition often need an organ transplant.

Image credit: Pixabay

In this study, which was reported in the American Journal of Human Genetics, the researchers assessed liver biopsies, health and genetic data, from patients with unexplained liver and kidney disease. Over half of the individuals had already experienced organ failure and a transplant, and their condition was poor. Urine samples were also used to generate cell lines that were studied in the lab.

After this study, fifteen patients were diagnosed with the disorder. "We were surprised at how many patients we were able to identify with TULP3-related ciliopathy," noted co-corresponding study author Professor John Sayer of Newcastle University. "This would suggest that the condition is prevalent within those with liver and kidney failure.

The study could have a massive influence on the management of cases, and may lead to improved diagnosis and management of kidney and liver disease for some individuals, added Sayer. In addition, "... 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."

One study volunteer has dealt with health issues for most of her life. She was sick as a child, and was diagnosed with liver failure by age 11. Successful treatment staved off the need for a liver transplant until 1994. She was recently diagnosed with kidney failure. The samples she provided for this research have now led to some clarity; she was one of the people diagnosed with TULP3-related ciliopathy.

"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," noted patient Linda Turnbull, who is an advocate and governor for the Liver North charity.

Ciliopathies are so-named because they are caused by dysfunction in the cilium, an appendage found on most cell types, which acts like a kind of signaling antenna. Researchers have been learning more about ciliopathies in recent decades.

Sources: Newcastle University, American Journal of Human Genetics

About the Author
BS
Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
APR 28, 2022
Genetics & Genomics
A Genetic Cause of Lupus is Identified
APR 28, 2022
A Genetic Cause of Lupus is Identified
Lupus is an autoimmune disease that can impact anyone, but tends to affects women between the ages of 15 and 45. The dis ...
MAY 12, 2022
Genetics & Genomics
A Genetic Mutation That Improves Intelligence
MAY 12, 2022
A Genetic Mutation That Improves Intelligence
The genetic mutations that have been studied the most are those that have been linked to human disease, but what about m ...
MAY 29, 2022
Cell & Molecular Biology
Multiomics Expands Our Understanding of Mitochondrial Proteins & Diseases
MAY 29, 2022
Multiomics Expands Our Understanding of Mitochondrial Proteins & Diseases
Mitochondria, organelles popularly known as powerhouses, are found in every cell, and they are crucial to cell function. ...
JUN 03, 2022
Plants & Animals
How Fish Developed Electric Organs and What it Means for Human Disease
JUN 03, 2022
How Fish Developed Electric Organs and What it Means for Human Disease
A new study published in Science Advances explores the unique evolutionary processes among certain genes in certain fish ...
JUN 19, 2022
Genetics & Genomics
What are Supergenes & Why are They Hot?
JUN 19, 2022
What are Supergenes & Why are They Hot?
When parents mate and produce offspring, their genomes recombine, shuffling the genetic information within. But supergen ...
JUL 29, 2022
Coronavirus
COVID-19 Emerged at Wuhan Wet Market, Other Scenarios Unlikely
JUL 29, 2022
COVID-19 Emerged at Wuhan Wet Market, Other Scenarios Unlikely
Since the start of the COVID-19 pandemic, researchers and scientists have searched for the origins of the virus. After i ...
Loading Comments...