In a study published Friday in Nature Reviews Liver, scientists at the Institute of Translational Medicine at the University of British Columbia shed new light on the genetics of polycystic kidney disease, also known as PCK, a common type of adult-onset liver disease.
As the result of a complex genetic network, the illness seems to involve luck rather than good health, according to a report in the medical journal, The New England Journal of Medicine.
Polycystic kidney disease affects between 3 million and 5 million Americans, according to the Centers for Disease Control and Prevention.
The condition is generally not life-threatening, but it makes it difficult for cysts to dissolve naturally without the help of medications. Since the disease is tied to fat deposits in the bile ducts, it can lead to infections that can be life-threatening.
Scientists have known for some time that these fat deposits spread throughout the body from the liver to bones. But it was unclear how they were contained and how they were transported throughout the body.
The latest paper details a family of genes in mice that shed light on how fat deposits can make their way into other organs. To date, only five genes have been linked to cholestasis — the flow of “leaky” fat away from the bile ducts into the blood stream, said Dr. Paula Yang, a professor of medicine at the UBC Institute of Translational Medicine and a co-author of the study. But there are many genes related to cholestasis that haven’t been associated with motor neuron disease, Yang said.
“We are saying for the first time there is a family of genes that are important for cholestasis, but not motor neuron disease,” Yang said.
The paper found that 18 of the body’s 25 genes that regulate the flow of fat from the liver to other organs were at play. Researchers took particular interest in the genes, called macromolecular activities/EaD, which are involved in initiating the movement of fatty acids and chemicals through the body, the study said.
As a result of the study, Yang is now discussing with regulators about whether the researchers might be able to begin clinical trials in humans. In the meantime, she said, there is still hope for those with liver disease.
“It’s important that we don’t abandon hope,” Yang said. “And now we have some hope.”