An international team of researchers, led by the University of Pittsburgh School of Medicine (United States), has identified a new determining factor in elevated levels of “bad” cholesterol (LDL): genetic predisposition.
Although diet and exercise are key elements in maintaining good cardiovascular health, the risk of developing heart disease also depends on genetic variations that affect the low-density lipoprotein receptor.
READ ALSO
A pioneering resource to detect genetic risk of high cholesterol
Table of Contents
The discovery, published in the magazine Science, presents an innovative resource that allows us to identify people with a greater genetic predisposition to accumulate LDL cholesterol in the arteries. This advance could help doctors predict the risk of heart attack or stroke early enough to implement preventative measures.
LDL cholesterol (bad cholesterol) and reduces HDL cholesterol (good cholesterol). Photo:iStock
“Even with normal LDL levels, a person may be at increased risk of heart attack due to pathogenic variants in the LDL receptor.”explained Dr. Frederick Roth, lead author of the study and director of the Department of Computational and Systems Biology at the University of Pittsburgh.
“By identifying harmful LDL receptor variants, doctors can initiate preventive treatment early and mitigate risks,” he added.
READ ALSO
How LDL works and why mutations are dangerous
Under normal conditions, LDL transport small amounts of “good” cholesterol, an essential component of cell membranes, digestion, hormone production and the synthesis of vitamins such as D.
However, mutations in the gene that codes for the LDL receptor can reduce the number or effectiveness of these receptors, causing dangerously high levels of LDL cholesterol in the blood.
Genetic predisposition influences having ‘bad’ cholesterol. Photo:iStock
Classification of 17,000 genetic variants
The study by Roth and his team analyzed about 17,000 modifications of the LDL receptor gene and their effects on the structure of the corresponding protein. The information obtained allowed us to create a table that classifies each variant according to its mechanism of action and its impact on the elimination of LDL cholesterol from the body. This resource offers physicians an accurate tool to assess the genetic risk of high cholesterol in their patients.
READ ALSO
A step towards early prevention of heart disease
Modern genetic sequencing technologies can read a person’s entire DNA in a few hours, but interpreting the data has been a challenge. This work represents a significant advance in the understanding of how genetic variations influence cardiovascular health.
This project is part of the Atlas of Variant Effects Alliance, an international initiative that brings together more than 500 scientists from 50 countries with the aim of mapping the functional effects of genetic variants in inherited diseases.
This you should know. Photo:iStock
Similar to how the identification of mutations in the BRCA1 gene allowed us to anticipate the risk of breast cancer, researchers hope that this new tool will become a key clinical resource to prevent heart and cerebrovascular diseases before they manifest.
Europa Press.
More news in EL TIEMPO
*This content was rewritten with the assistance of artificial intelligence, based on Europa Press information, and was reviewed by the journalist and an editor.
