Single Gene Mutation Reduces Cardiovascular Disease Risk in Humans

Researchers have uncovered evidence for a rare natural genetic mutation in our species that lowers blood cholesterol and thus reduces risk of some forms of cardiovascular disease. Given the results reported in the research noted here, we might add ASGR1 deletion or knockdown to the growing list of possible gene therapy enhancements that one might want to undergo as the cost of such treatments falls, should the evidence for benefits without drawbacks hold up in replication studies:

According to new research, just less than one per cent of the population is naturally protected against developing chronic coronary artery diseases. The study involved 292,000 participants of European origin. 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 1 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. 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."



Anybody know if you can see the gene at 23andme and which letters that are protective?

Posted by: Peter at May 25th, 2016 7:18 PM

@Peter: One could probably figure that out from the API and some comparisons with other open databases to match SNPs to genes.

Posted by: Reason at May 25th, 2016 7:47 PM
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