Mayo researchers help discover genetic cause for primary biliary...( ROCHESTER Minn. -- Researchers have ...),Health

ROCHESTER, Minn. -- Researchers have discovered a novel molecular path that predisposes patients to develop primary biliary cirrhosis, a disease that mainly affects women and slowly destroys their livers. Primary biliary cirrhosis has no known cause.

The finding, significant because it is a first step toward developing a targeted treatment and a cure, will be published in the June 11, 2009, issue of the New England Journal of Medicine.

"Now that we better understand the molecular basis of primary biliary cirrhosis, we can look for ways to specifically fix those elements," says Konstantinos Lazaridis, M.D., a Mayo Clinic hepatologist and a senior researcher in the study.

Currently, treatments for primary biliary cirrhosis can slow progression of the disease, which affects 1 in 2,500 Americans, 90 percent of them women. However, about half of patients do not respond to medical therapy. For some patients, a liver transplant cures the condition. But not all patients qualify for a transplant, and some transplant recipients experience a recurrence within five to 10 years.

The study was conducted at the University of Toronto using blood samples of patients collected at several medical centers in Canada and at Mayo Clinic's campus in Rochester, Minn., through its Primary Biliary Cirrhosis Genetic Epidemiology Research Resource. This resource comprises the biospecimens of hundreds of primary biliary cirrhosis patients and individuals who do not have the disease (controls) --matched for age, sex, race and state of residence. Mayo Clinic and the University of Toronto are among the largest treatment centers in North America for primary biliary cirrhosis.

The University of Texas MD Anderson Cancer Center in Houston provided historical controls and conducted the statistical analysis of the study.

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