Liver alcoholic cirrhosis: a major genetic advance

Up to 4% of all deaths worldwide are attributable to excessive alcohol consumption. The liver is the most common affected organ by chronic alcohol consumption. Alcohol misuse is the leading cause of liver cirrhosis and the first cause of cirrhosis mortality in Western countries. Although the risk increases with daily alcohol consumption, alcoholic cirrhosis will only develop in a minority (10-15%) of heavy drinkers suggesting a genetic predisposition.

In collaboration with clinical scientists from England and Germany, two researchers from the Fund for Scientific Research – FNRS at the ULB, Dr. Eric Trépo under the supervision of Prof. Denis Franchimont, have identified two novel genes (TM6SF2 and MBOAT7) and have confirmed the major impact of a third one (PNPLA3)associated with an increased risk of alcoholic cirrhosis. This work has been published in the prestigious journal Nature Genetics.

This study suggests the deleterious effect of alcohol on liver fat metabolism in the liver cells. It is by its deleterious effect on fat metabolism that alcohol would lead to liver cirrhosis particularly in individuals carrying specific variations of these 3 susceptibility genes. This work was made possible thanks to the large population of patients in the past 12 years who agreed to donate blood samples for scientific research in the Department of Gastroenterology of Erasme Hospital, ULB.

This discovery may help in the estimation of risk for cirrhosis in heavy drinkers. These findings might allow a better understanding of the mechanisms leading to the development of alcoholic cirrhosis and help future clinical scientists identify new drug targets for this life threatening disease.

Doctors Eric Trépo, MD, PhD and Denis Franchimont, MD, PhD are gastroenterologists and researchers from the Fund for Scientific Research-FNRS.

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