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.
You May Also Like
AUG 22, 2020
Cardiology
Can Playing Your Favorite Music Improve Your Physical Performance?
AUG 22, 2020
Can Playing Your Favorite Music Improve Your Physical Performance?
If you go to the gym, you will usually see people with headphones jamming out to their favorite music while exercising. ...
AUG 25, 2020
Drug Discovery & Development
Blood-Pressure Medications Lower The Risk of Depression
AUG 25, 2020
Blood-Pressure Medications Lower The Risk of Depression
Do commonly prescribed blood pressure medications increase the risk of depression? The answer is No—according to a ...
SEP 10, 2020
Cardiology
Many Doctors Have Used the Wrong Criteria to Diagnose Hypertension
SEP 10, 2020
Many Doctors Have Used the Wrong Criteria to Diagnose Hypertension
A recent survey has shown that most health care professionals may not be using the current information to screen for and ...
OCT 01, 2020
Cardiology
Investigating Inflammation in Coronary Artery Bypass Grafts
OCT 01, 2020
Investigating Inflammation in Coronary Artery Bypass Grafts
The heart is a vital part of the body that can last one hundred years, yet even a small change can cause massive consequ ...
OCT 08, 2020
Cardiology
Omega-3 Enriched Chicken as a Fish Alternative for Omega-3 Fatty Acids
OCT 08, 2020
Omega-3 Enriched Chicken as a Fish Alternative for Omega-3 Fatty Acids
We have all seen those articles telling us to get more omega-3 fatty acids in our diet. Many studies point to these spec ...
NOV 10, 2020
Genetics & Genomics
Learning More About the Causes of Preeclampsia
NOV 10, 2020
Learning More About the Causes of Preeclampsia
Preeclampsia is a complication of pregnancy characterized by high blood pressure and it arises in anywhere from two to e ...
Loading Comments...