Genetic findings offer hope to liver patients

Researchers at Oslo University have identified nine new genetic loci that are important in the development of a serious liver disease.

A damaged liver is replaced with a healthy one. PSC has for many years been the most common reason for liver transplants in Norway. Photo: Ram Gupta, Oslo University Hospital.

A huge project is now bearing fruit. Perhaps the discovery of nine new genetic loci that play a key role in the development of a rare autoimmune liver disease will pave the way for new medical treatment.

More targeted treatment

Primary sclerosing cholangitis (PSC) is a chronic disease affecting the bile ducts. It creates scar tissue that slows the transport of bile from the liver to the intestines. The result may be cirrhosis of the liver.

Researchers at the Institute of Clinical Medicine and Oslo University Hospital have now made new genetic findings that may offer hope of more effective treatment for PSC patients.

"The finding is of great importance to patients affected by PSC, because it opens the way for research on the specific mechanisms that damage the bile ducts", says Professor Tom Hemming Karlsen. He has directed the study, which has involved data from more than 4000 PSC patients.

"Previously we have only been able to hazard guesses about the cause of the disease. Our genetic findings provide quite specific clues as to what is wrong.

This means that in the future researchers can apply treatment that targets the underlying mechanisms. Such fine tuning of the artillery may slow the advance of the disease.”

The research results are startling, and have now been published in the journal Nature Genetics - a prestigious giant of international research with rigorous selection criteria.

Damages the liver

The researchers have now established that PSC is a separate disease, in genetic terms.

"We have long suspected that both the bowel and the bile duct inflammation associated with PSC are distinct from other types of inflammatory bowel disease. We are now seeing for the first time which biological mechanisms are specific to PSC. This may make it possible to develop medication for patients with this disease", relates Karlsen.

There is no treatment for PSC at present. The course and seriousness of the disease are very variable, but many patients quite simply need a new liver. As a result, PSC has for many years been the most common reason for liver transplants in Norway. Some patients also develop cancer in the damaged bile ducts, and the cancer is often detected too late.

PSC is an ominous disease, which is why these research findings are so important.

Insight gives hope

The researchers have also compared genetic findings among a large number of autoimmune diseases, and point out areas in which they are similar and areas in which they differ from one another.

"This will give us insight into features that are common to the diseases, and hence also clues as to which medicines may be efficacious across the traditional disease categories", says Karlsen.

PSC is a rare disease. But for those it affects, it is a tragedy. It is therefore encouraging to know that the present research results may prove very important for the development of medicines that can treat PSC.

By Marianne Baksjøberg
Published May 15, 2013 1:15 PM - Last modified May 15, 2013 1:15 PM