Mutation protects against heart disease


According to new international research, just less than 1% of the population is naturally protected against developing chronic coronary artery diseases. Image source:

According to new international research, just less than 1% of the population is naturally protected against developing chronic coronary artery diseases. The New England Journal of Medicine, a renowned health journals, has just published the results of international genetic research collaborations.

Researchers from Iceland’s deCode Genetics headed the project, which involved 292,000 participants of European origin, of which approx. 10,000 were from Denmark. Applying advanced gene sequencing techniques, the researchers located an area—a deletion—in the human genome, which lacked 12 DNA building blocks in 0.8% of the participants.

Subsequent cell experiments revealed that due to the deletion, the serried gene, ASGR1, is unable to establish the normal structure and function of the protein called the asialoglycoprotein receptor. The receptor protein binds certain sugars and surprisingly, it now turns out that the receptor plays an important role in our cholesterol metabolism and potentially related to vascular inflammation, and in whether or not we develop arteriosclerosis in coronary arteries.

“What’s spectacular about the discovery is the fact that individuals with this rare and particular mutation have a lower level of cholesterol in their blood and their risk of developing arteriosclerosis is 34% less. In other words, just under 1% of the European population is fortunate to have been born with a mutation that decreases their cholesterol levels and thus to a certain extent protects them from developing coronary atherosclerosis,” said Professor Oluf Pedersen from Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen.

Potential for new preventive measures and treatments
“The mutated protein is expressed in a part of human biology, which we have not previously been focused on in our attempts to understand the mechanisms behind arteriosclerosis,” Pedersen said. “This unexpected finding will undoubtedly result in many researchers examining the underlying biological systems very thoroughly; hoping to use this new knowledge to develop new preventive measures and treatments for cardiovascular diseases.”

Researchers from the universities of Copenhagen, Aarhus and Aalborg as well as the Center for Prevention and Health in Glostrup, Gentofte Hospital, Roskilde Hospital and Hvidovre Hospital represent Denmark in the study.

University of Copenhagen

The New England Journal of Medicine

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