Common

Gen variant decides whether humans have Hypercholesterolemia

Why do some people have an elevated cholesterol level and suffer from cardiac infarction whereas others appear to be safe? Scientists from Denmark and Germany have found the answer: it’s due to a gene. It emerges in different variants: one is protective while the other isn’t. The scientists from the University of Aarhus, Denmark, and the Max-Delbrück-Center for Molecular Medicine (MDC) in Berlin were able to demonstrate that the gene in question decides how much cholesterol is released from the liver into the blood (Cell Metabolism, doi: 10.1016/j.cmet.2010.08.006)*.

The gene is called SORT1 and is already being researched on in the context of neurological diseases by scientists at MDC. So called genome-wide association studies have shown that there is also an interaction with cardiovascular diseases. In this process, geneticists are looking for connections between common genetic variants in the human genome and certain diseases.

Large scale international Genome studies have recently identified a certain region on the human Chromosome 1 that causes a high cholesterol level. Through further tests the international team also figured out how SORT1 functions: It produces a factor providing for the liver to release cholesterol more efficiently. Humans carrying a less active gene variant however, release less cholesterol – and are shielded.

According to the scientists, the SORT1-Gene could be a starting point for developing new medication to block „bad“ cholesterol from being released from the liver into the blood However, SORT1 is only one of plenty infarction risk factors. Hence, it is not enough to test which genetic variant a person carries. Even people with the “healthy gene variant” may suffer from high cholesterol levels when other adverse factors like unhealthy nutrition or overweight are present. Therefore, the scientists are advocating a healthy lifestyle – low-fat nutrition and lots of exercise.

*Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export Mads Kjolby,1 Olav M. Andersen,1 Tilman Breiderhoff,3 Anja W. Fjorback,2 Karen Marie Pedersen,1 Peder Madsen,1 Pernille Jansen,1 Joerg Heeren,4 Thomas E. Willnow,3,* and Anders Nykjaer1,* 1The Lundbeck Foundation Research Center MIND, Department of Medical Biochemistry, Ole Worms Allé 1170 2MIND Center, Stereology and Electron Microscopy Laboratory Aarhus University, 8000 Aarhus C, Denmark 3Max-Delbrück-Center for Molecular Medicine, 13125 Berlin, Germany 4Department of Biochemistry and Molecular Biology II: Molecular Cell Biology, University Medical Center Hamburg-Eppendorf, Martinistraße 52,
20246 Hamburg, Germany
*Correspondence: willnow@mdc-berlin.de (T.E.W.), an@biokemi.au.dk (A.N.)

Contact Information:
Barbara Bachtler
Press Office
Max-Delbrück-Centrum für Molekulare Medizin (MDC)
Berlin-Buch
Robert-Rössle-Straße 10
13125 Berlin
Phone: +49 (0) 30 94 06 - 38 96
Fax: +49 (0) 30 94 06 - 38 33
e-mail: presse@mdc-berlin.de
http://www.mdc-berlin.de/

Further Information:
http://dx.doi.org/10.1016/j.cmet.2010.08.00

Source: Max-Delbrück Center for Molecular Medicine

Topic: Health and Medicine

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	Common Gen variant decides whether humans have Hypercholesterolemia Why do some people have an elevated cholesterol level and suffer from cardiac infarction whereas others appear to be safe? Scientists from Denmark and Germany have found the answer: it’s due to a gene. It emerges in different variants: one is protective while the other isn’t. The scientists from the University of Aarhus, Denmark, and the Max-Delbrück-Center for Molecular Medicine (MDC) in Berlin were able to demonstrate that the gene in question decides how much cholesterol is released from the liver into the blood (Cell Metabolism, doi: 10.1016/j.cmet.2010.08.006). The gene is called SORT1 and is already being researched on in the context of neurological diseases by scientists at MDC. So called genome-wide association studies have shown that there is also an interaction with cardiovascular diseases. In this process, geneticists are looking for connections between common genetic variants in the human genome and certain diseases. Large scale international Genome studies have recently identified a certain region on the human Chromosome 1 that causes a high cholesterol level. Through further tests the international team also figured out how SORT1 functions: It produces a factor providing for the liver to release cholesterol more efficiently. Humans carrying a less active gene variant however, release less cholesterol – and are shielded. According to the scientists, the SORT1-Gene could be a starting point for developing new medication to block „bad“ cholesterol from being released from the liver into the blood However, SORT1 is only one of plenty infarction risk factors. Hence, it is not enough to test which genetic variant a person carries. Even people with the “healthy gene variant” may suffer from high cholesterol levels when other adverse factors like unhealthy nutrition or overweight are present. Therefore, the scientists are advocating a healthy lifestyle – low-fat nutrition and lots of exercise. Sort1, Encoded by the Cardiovascular Risk Locus 1p13.3, Is a Regulator of Hepatic Lipoprotein Export Mads Kjolby,1 Olav M. Andersen,1 Tilman Breiderhoff,3 Anja W. Fjorback,2 Karen Marie Pedersen,1 Peder Madsen,1 Pernille Jansen,1 Joerg Heeren,4 Thomas E. Willnow,3,* and Anders Nykjaer1,* 1The Lundbeck Foundation Research Center MIND, Department of Medical Biochemistry, Ole Worms Allé 1170 2MIND Center, Stereology and Electron Microscopy Laboratory Aarhus University, 8000 Aarhus C, Denmark 3Max-Delbrück-Center for Molecular Medicine, 13125 Berlin, Germany 4Department of Biochemistry and Molecular Biology II: Molecular Cell Biology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany Correspondence: willnow@mdc-berlin.de (T.E.W.), an@biokemi.au.dk (A.N.) Contact Information:* Barbara Bachtler Press Office Max-Delbrück-Centrum für Molekulare Medizin (MDC) Berlin-Buch Robert-Rössle-Straße 10 13125 Berlin Phone: +49 (0) 30 94 06 - 38 96 Fax: +49 (0) 30 94 06 - 38 33 e-mail: presse@mdc-berlin.de http://www.mdc-berlin.de/ Further Information: http://dx.doi.org/10.1016/j.cmet.2010.08.00 Source: Max-Delbrück Center for Molecular Medicine Topic: Health and Medicine	Print page Back