Toxic bile damages the liver

Oct 24, 2008

Researchers at the Heidelberg University Hospital have discovered a new genetic disease that can lead to severe liver damage. Because a protective component of the bile is missing, the liver cells are exposed to the toxic components of the bile, resulting in cirrhosis of liver, a transformation of liver cells into connective tissue with a gradual loss of liver function. This could explain some of the cases of liver cirrhosis of unknown origin and open up a new approach for treatment. The research has now been published in the journal Hepatolog.

Some of the known frequent causes of cirrhosis of the liver are liver inflammation due to a virus, alcohol abuse, autoimmune disease, and metabolic defects. But in some 15 to 20 percent of patients, the cause is unknown and the appropriate treatment cannot be initiated.

The Heidelberg University Hospital team, including Dr. Daniel Gotthardt and Dr. Peter Sauer of the Gastroenterology Department and Dr. Heiko Runz and Professor Dr. Johannes Zschocke of the Institute of Human Genetics, discovered that a mutation of the ABCB4 gene can cause inadequate secretion of bile in the liver, giving rise to cirrhosis. The illness can begin in childhood or at an adult age and lead to death. The gene ensures the production of a transporter protein that is responsible for the excretion of phosphatidylcholine into bile. Phosphatidylcholine protects the liver from toxic substances in the bile; a low concentration can thus lead to liver damage.

It was already known that another mutation in the ABCB4 gene can cause severe liver disease in babies. The disease occurs only if the gene is inherited from both father and mother. Women who carry the mutated ABCB4 gene but are not themselves affected have a clearly increased risk of suffering from pronounced jaundice during pregnancy. Genetic counseling and close supervision during pregnancy should be considered.

Source: University Hospital Heidelberg

Explore further: Research uncovers DNA looping damage tied to HPV cancer

add to favorites email to friend print save as pdf

Related Stories

More male fish "feminized" by pollution on the Basque coast

Mar 28, 2014

The UPV/EHU's Cell Biology in Environmental Toxicology group has conducted research using thick-lipped grey mullet and has analysed specimens in six zones: Arriluze and Gernika in 2007 and 2008, and since then, Santurtzi, ...

Consortium finds chronic liver cirrhosis clues

Mar 13, 2011

Researchers have provided new clues into the genetics underlying a chronic form of liver disease, called primary biliary cirrhosis, which can lead to transplant surgery for patients. The new study identifies 15 genetic regions ...

Bile acids link high-fat diet to colon cancer

Feb 09, 2011

(PhysOrg.com) -- Bile acids could be the missing link between a high-fat, Western-style diet and colon cancer, UA researchers Carol and Harris Bernstein and their collaborators have discovered.

Fueling the body on fat

Jan 04, 2011

Researchers have found what appears to be a critical tuning dial for controlling whole body energy, according to a new report in the January issue of Cell Metabolism. When energy levels within cells drop, it sets off a ...

Recommended for you

Research uncovers DNA looping damage tied to HPV cancer

3 hours ago

It's long been known that certain strains of human papillomavirus (HPV) cause cancer. Now, researchers at The Ohio State University have determined a new way that HPV might spark cancer development – by ...

New therapy against rare gene defects

Apr 15, 2014

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under ...

User comments : 0

More news stories

US judge overturns state's abortion law

A federal judge on Wednesday overturned a North Dakota law banning abortions when a fetal heartbeat can be detected, as early as six weeks into pregnancy and before many women know they're pregnant.

Meteorites yield clues to Martian early atmosphere

(Phys.org) —Geologists who analyzed 40 meteorites that fell to Earth from Mars unlocked secrets of the Martian atmosphere hidden in the chemical signatures of these ancient rocks. Their study, published ...

Japan lawmakers demand continued whaling

Japanese lawmakers on Wednesday demanded the government redesign its "research" whaling programme to circumvent an international court ruling that described the programme as a commercial hunt dressed up as ...