September 15, 2016
A large international team of researchers lead by The Westmead Institute for Medical Research in Sydney have found a new genetic variant that puts chronic hepatitis C patients at risk of developing liver disease.
In a paper published in the prestigious journal Nature Communications, the team lead by Professor Jacob George and Dr. Mohammed Eslam from The Westmead Institute’s Storr Liver Centre describe their analysis of more than 2000 patients, finding that a variant in the MBOAT7 gene is linked to increased liver inflammation, and thereby fibrosis (scarring).
Researchers identified that patients with the risk variant have low expression of MBOAT7 - a protective enzyme which reduces inflammation. With low expression, these patients have more severe liver inflammation and inflammatory markers in their blood.
Professor George said that the MBOAT7 gene could be the key to finding a treatment for a wide range of diseases.
“This gene is expressed by many immune cell types and is likely to be critical for the progression of inflammation and fibrosis irrespective of the organ,” he said.
“This could be the key to finding a treatment for a wide range of potentially deadly conditions characterised by tissue scarring that can include diseases of the heart, lungs, and kidney, as well as the liver”, he said.
Dr. Eslam said the MBOAT7 gene discovery adds another gene to the one identified last year by the same team as a marker for liver fibrosis progression.
“Finding the genes responsible for placing liver disease patients at risk is the first step in developing targeted therapies and better management,” he said.
Despite decades of research and billions of dollars spent worldwide, there is still no effective anti-fibrotic drug.
The paper’s first author, Dr. Khaled Thabet, said the findings are a potentially important step along the road towards better understanding the role of genetics in how a disease manifests