Science News
from research organizations

Mutation protects against heart disease

Date:
May 23, 2016
Source:
University of Copenhagen The Faculty of Health and Medical Sciences
Summary:
Just less than one per cent of the population is naturally protected against developing chronic coronary artery diseases, a new study suggests.
Share:
FULL STORY

According to new international research, just less than one per cent of the population is naturally protected against developing chronic coronary artery diseases. .

The New England Journal of Medicine 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 twelve DNA building blocks in 0.8 per cent 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 per cent less. In other words, just under one per cent 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," says Professor Oluf Pedersen, 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. This unexpected finding will undoubtedly result in many researchers examining the underlying biological systems very thoroughly; hoping to utilize this new knowledge to develop new preventive measures and treatments for cardiovascular diseases," Oluf Pedersen elaborates.

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.


Story Source:

Materials provided by University of Copenhagen The Faculty of Health and Medical Sciences. Note: Content may be edited for style and length.


Journal Reference:

  1. Paul Nioi, Asgeir Sigurdsson, Gudmar Thorleifsson, Hannes Helgason, Arna B. Agustsdottir, Gudmundur L. Norddahl, Anna Helgadottir, Audur Magnusdottir, Aslaug Jonasdottir, Solveig Gretarsdottir, Ingileif Jonsdottir, Valgerdur Steinthorsdottir, Thorunn Rafnar, Dorine W. Swinkels, Tessel E. Galesloot, Niels Grarup, Torben Jørgensen, Henrik Vestergaard, Torben Hansen, Torsten Lauritzen, Allan Linneberg, Nele Friedrich, Nikolaj T. Krarup, Mogens Fenger, Ulrik Abildgaard, Peter R. Hansen, Anders M. Galløe, Peter S. Braund, Christopher P. Nelson, Alistair S. Hall, Michael J.A. Williams, Andre M. van Rij, Gregory T. Jones, Riyaz S. Patel, Allan I. Levey, Salim Hayek, Svati H. Shah, Muredach Reilly, Gudmundur I. Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Lambertus A. Kiemeney, Arshed A. Quyyumi, Daniel J. Rader, William E. Kraus, Nilesh J. Samani, Oluf Pedersen, Gudmundur Thorgeirsson, Gisli Masson, Hilma Holm, Daniel Gudbjartsson, Patrick Sulem, Unnur Thorsteinsdottir, Kari Stefansson. VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease. New England Journal of Medicine, 2016; DOI: 10.1056/NEJMoa1508419

Cite This Page:

University of Copenhagen The Faculty of Health and Medical Sciences. "Mutation protects against heart disease." ScienceDaily. ScienceDaily, 23 May 2016. <www.sciencedaily.com/releases/2016/05/160523113847.htm>.
University of Copenhagen The Faculty of Health and Medical Sciences. (2016, May 23). Mutation protects against heart disease. ScienceDaily. Retrieved May 23, 2017 from www.sciencedaily.com/releases/2016/05/160523113847.htm
University of Copenhagen The Faculty of Health and Medical Sciences. "Mutation protects against heart disease." ScienceDaily. www.sciencedaily.com/releases/2016/05/160523113847.htm (accessed May 23, 2017).

RELATED STORIES