Human Genome Deletion Protects from Coronary Artery Diseases

The deletion affects ASGR1’s ability to create a normal structure and function normally.

In a recent study, it was discovered that a deletion in the human genome causes a rare mutation that naturally protects against chronic coronary artery diseases.

Researchers in the study, published in the New England Journal of Medicine, used gene sequencing techniques to find a deletion of 12 DNA building blocks occurred in .8% of patients. There were 292,000 patients included in the study.

Due to this deletion, the asialoglycoprotein receptor (ASGR1) was unable to create a normal structure and function. This receptor is known to bind to certain sugars.

ASGR1 has been found to be vital in cholesterol metabolism. It also may be related to vascular inflammation, and whether or not a person develops arteriosclerosis in coronary arteries, according to the study.

"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,” said researcher Oluf Pedersen, MD, DMSc. “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.”

Researchers believe their findings have potential for preventative 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,” Dr Pedersen concluded. “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.”