MAY 24, 2016 10:17 AM PDT

Rare Gene Deletion Prevents Atherosclerosis

WRITTEN BY: Kara Marker
Recent studies analyzing the global burden of atherosclerosis, a buildup of plaque in the blood vessels that leads to coronary artery disease, show an overall increase in atherosclerosis-related deaths in the past two decades. A new international project led to the discovery of a gene mutation that reduces blood cholesterol levels and reduces the risk of atherosclerosis. However, under one percent of the European population is believed to have this mutation.
 
Plaque buildup disrupting blood flow
 
The new study, published in the New England Journal of Medicine, contained data from 292,000 European participants. Researchers sequenced each genome, looking for any sign that certain genes worsened or alleviated the tendency for a person to develop atherosclerosis.
 
They found a deletion in a gene called ASGR1, which codes for a protein receptor called asialoglycoprotein. The receptor is required for functional glycoprotein homeostasis. In addition to being potentially associated with liver infection, researchers from the study realized that ASGR1 is also vital for determining cholesterol metabolism, vascular inflammation, and the development of atherosclerotic plaques in the arteries.
 
The deletion in ASGR1 that the scientists found consists of 12 missing nucleotides, whose absence disrupts the normal function and structure of the protein receptor. For the 0.8 percent of the study participants who were discovered to have this deletion, their risk of developing atherosclerosis was 34 percent less than the other participants, and they showed a noticeably lower level of blood cholesterol.
 
So what does this mean for the other 99 percent of the population? Professor Oluf Pedersen from the University of Copenhagen hopes that the deletion in ASGR1 will be added to the volumes of research scientists use to study atherosclerosis:
 
“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.”
 

Sources: University of Copenhagen - Faculty of Health and Medical Sciences, GeneCards Human Gene DatabaseArchives of Medical Research
About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
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