Genetic Links to Rare Liver Disease Found
June 11 -- WEDNESDAY, June 10 (HealthDay News) -- Scientists have found genetic variations that appear to increase the risk of developing primary biliary cirrhosis, a baffling disease that can destroy the liver.
Primary biliary cirrhosis is an autoimmune disorder that blocks the bile ducts in the liver. It is a condition that mostly affects women, striking about one in 2,500 Americans. The current treatment works in about half of patients. The other half will need a liver transplant at sometime in the course of the disease, according to researchers, but the condition has been known to return even after transplantation.
"We have known virtually nothing about what causes primary biliary cirrhosis," said lead researcher Dr. Katherine Siminovitch, a senior investigator at the Samuel Lunenfeld Research Institute of Mount Sinai Hospital in Toronto. "What we have found are some of the major genetic causes of the disease," she said.
"About half the patients will respond to that treatment, but half won't. Of the half that won't, some will be OK, but many won't and they will have to have a liver transplant," she explained. "So, we urgently need a new medical therapy."
Siminovitch thinks the findings indicate that drugs already being used to treat other autoimmune diseases might work for primary biliary cirrhosis. "This is terrific for us, because we can now begin to do early trials to see if it will change the outcome of this disease," she said.
It is also possible new, more-targeted drugs could be made to treat the disease, she said.
In addition, the findings may also make it possible to predict who is likely to develop the disease and possibly prevent it, Siminovitch said.
The report is published in the June 11 issue of the New England Journal of Medicine.
For the study, Siminovitch's team analyzed blood samples from patients with primary biliary cirrhosis as well as samples from people who did not have the condition.
In the first phase of the study, researchers did a genomewide analysis, comparing the genotypes of 536 patients with primary biliary cirrhosis with 1,536 people who did not have the disease. In the next phase, researchers conducted genetic mapping to confirm the initial results and to identify genetic variations closely associated with primary biliary cirrhosis.
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