Alcoholic liver disease: Major genetic advance
- Date:
- October 20, 2015
- Source:
- Libre de Bruxelles, Université
- Summary:
- 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.
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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 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.
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Materials provided by Libre de Bruxelles, Université. Note: Content may be edited for style and length.
Journal Reference:
- Stephan Buch, Felix Stickel, Eric Trépo, Michael Way, Alexander Herrmann, Hans Dieter Nischalke, Mario Brosch, Jonas Rosendahl, Thomas Berg, Monika Ridinger, Marcella Rietschel, Andrew McQuillin, Josef Frank, Falk Kiefer, Stefan Schreiber, Wolfgang Lieb, Michael Soyka, Nasser Semmo, Elmar Aigner, Christian Datz, Renate Schmelz, Stefan Brückner, Sebastian Zeissig, Anna-Magdalena Stephan, Norbert Wodarz, Jacques Devière, Nicolas Clumeck, Christoph Sarrazin, Frank Lammert, Thierry Gustot, Pierre Deltenre, Henry Völzke, Markus M Lerch, Julia Mayerle, Florian Eyer, Clemens Schafmayer, Sven Cichon, Markus M Nöthen, Michael Nothnagel, David Ellinghaus, Klaus Huse, Andre Franke, Steffen Zopf, Claus Hellerbrand, Christophe Moreno, Denis Franchimont, Marsha Y Morgan, Jochen Hampe. A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis. Nature Genetics, 2015; DOI: 10.1038/ng.3417
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