Troll's Heart: details
A gene has been found that reduces the risk of heart attack by a third. Doctors create medicine
Daria Zagorskaya, Vesti
The Icelandic company Decode Genetics, which merged in 2012 with the biotech giant Amgen, is considered a world leader in decoding and analyzing the human genome. It is also known for having one of the largest DNA databases.
Recently, Decode specialists discovered a rare mutation of the ASGR1 gene, the presence of which in the human genome significantly reduces one of the cholesterol indicators, the so-called non-HDL cholesterol ("non-HDL cholesterol"), or non-HDL-C.
It is directly related to the formation of plaques in the arteries, which cause the development of most cardiovascular diseases. The value of the non-HDL-c indicator is obtained if the content of high-density lipoprotein cholesterol (HDL), which is also known as "good cholesterol", is subtracted from the total cholesterol in the blood serum.
The work on the search for a gene associated with cholesterol levels was started with a complete reading of the 2636 genomes of the inhabitants of Iceland. Since most Icelanders descended from a small number of early settlers, they most often have a variety of unusual genetic modifications, which greatly simplifies the process of finding them.
At the second stage, scientists analyzed the genomes of another 398 thousand islanders from the database, but only partially. As a result, the desired mutation was found in one out of every 120 Icelanders. And for them, the risk of coronary heart disease and myocardial infarction was lower by as much as 35% compared to other people.
The essence of the desired ASGR1 mutation is that the gene is literally "broken" and does not produce the encoded protein. That is, any medicine that can inhibit (suppress) its work or simply turn it off will allow it to influence the development of cardiovascular diseases.
After the initial discovery of the mutation, the study was continued. Scientists have studied the genomes of 300 thousand inhabitants of the Netherlands, Denmark, Germany, New Zealand, Great Britain and the USA. In all cases, there was a search for a link between a decrease in ASGR1 activity and the risk of coronary heart disease. The results of the work fully confirmed the initial assumptions of scientists.
"This discovery is directly related to improving the health of millions of people around the world in the future," says Kari Stefansson, founder and CEO of Decode, in a press release from Amgen Landmark deCODE genetics Study Points to a New Mechanism that Affects Cholesterol Levels and The Risk of Heart Disease. "Our results are not based on a beautiful hypothesis or "successful chemistry", but on a direct understanding of the basic biology of the disease, which only genetics can give."
Based on the discovery of Decode, described in an article published in the New England Journal of Medicine, Amgen specialists have already begun work on the creation of a drug. But according to the most optimistic forecasts, it will take more than 10 years to bring a new drug to the market, since it is necessary not only to develop a method of innovative treatment, but also to test it for safety on laboratory animals, and then during clinical trials on humans. The latter, as we know, do not always end well.
Portal "Eternal youth" http://vechnayamolodost.ru
02.06.2016