Scientists from Germany's Heidelberg University Hospital have discovered a new genetic disorder. A mutated gene leads to loss of function of some liver cells and may go some way to explaining some of the causes of liver cirrhosis.
Liver disease and genes, an area that arouses much interest amongst some geneticists. The genetic culprit at the heart of this story is a gene called ABCB4. Researchers discovered that a mutated form of the gene slows down the production of bile, a previously unknown genetic disorder which can lead to cirrhosis of the liver and ultimately death. Their work was published in the journal Hepatology.
Bile is a vital ingredient in our digestive system. It's secreted by the liver and aids in the digestion of fats.
Genetic mutation
In a normal, working and fully functioning digestive system the ABCB4 gene ensures the production of a transporter protein that itself is responsible for the secretion of a protective substance into the bile. This substance protects the liver from toxic and harmful substances in the bile. The mutated gene means that the transporter protein is not working correctly and so lower concentrations of the protective substance is made, and the liver becomes more vulnerable to damage.
Cirrhosis of the liver
This latest research may go some way to explaining some of the mysterious causes of cirrhosis of the liver. Cirrhosis a scarring of the liver and is a very serious condition. The trouble builds up over many years and it's most commonly due to excessive alcohol drinking. There are other reasons too, including chronic viral hepatitis, autoimmune diseases, chemical and drug abuse and metabolic disorders. But some experts reckon that about 20% of cases are due to unknown causes. It could be that the genetic mutation found in ABCB4 could account for all, or some of these cases.
Not knowing the cause can make it particularly problematic when it comes to trying to find an appropriate treatment for a patient.
Liver disease and genes
The ABCB4 gene has been previously identified as having a role in liver disease. Another genetic mutation of the gene causes severe liver disease in babies.
Gradually, research is revealing more about this particular gene. The good news is that it should allow for swifter diagnosis and ultimately new ways of treating this potentially fatal condition.
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