A new genetic tool from the University of Pittsburgh helps identify hidden risks for high LDL cholesterol and heart disease—even with normal blood tests.
Researchers at the University of Pittsburgh School of Medicine are the first to develop a groundbreaking genetic resource for identifying individuals who are predisposed to high levels of bad cholesterol despite having normal blood tests. The research published in Science has the potential to help physicians predict and prevent heart attacks and strokes before they occur.
Heart disease remains the leading cause of death in the United States, claiming nearly 700,000 lives each year. Despite the role of unhealthy diets and sedentary lifestyles, scientists have long recognised that the genetic factor is important in the way cholesterol accumulates within the arteries, leading to dangerous plaque formation (1✔ ✔Trusted Source
Study Links Genetic Variants to Higher ‘Bad’ Cholesterol and Heart Attack Risk
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Why Genes Matter More Than You Think
LDL (low-density lipoprotein) is a molecule used by our bodies to transport cholesterol, which is essential for the formation of cell membranes and hormones. Typically, special receptors act as docking stations, clearing LDL in the blood. However, when there are mutations in the LDL receptor gene, the receptors do not function properly, and LDL levels rise, increasing the risk of heart disease even in people who eat well and exercise regularly.
Dr Frederick Roth, senior author of the study, explained, “Even with normal LDL levels, a person might still face a high risk of a heart attack due to harmful genetic variants in the LDL receptor.”
Mapping 17,000 Genetic Variants
To address this, Roth’s team analysed nearly 17,000 variations of the LDL receptor gene and measured how each one affects the body’s ability to remove LDL from the blood. The result is a massive, one-of-a-kind reference map that shows which mutations are dangerous or harmless.
This new tool will allow doctors to read genetic test results as quickly as possible and provide early treatment or preventive care, even long before symptoms appear. Dr Dan Roden, a co-author at Vanderbilt University Medical Centre, believes that these findings could increase the number of people diagnosed with inherited high cholesterol by tenfold, assisting thousands of people who would otherwise go unnoticed.
Beyond Cholesterol: A Global Genetic Effort
This cholesterol mapping project is part of a much larger global collaboration called the Atlas of Variant Effects Alliance, involving over 500 scientists from 50 countries. They aim to map the influence of genetic variants associated with most diseases, as the discovery of BRCA1 mutations revolutionised breast cancer prevention.
Interestingly, the researchers discovered an unexpected twist: some LDL receptor variants were influenced by very low-density lipoprotein (VLDL), a larger form of cholesterol that can interfere with LDL clearance. This unexpected discovery opens up new avenues for research into the interactions of various forms of cholesterol in the body.
The Future of Heart Health
With such a new genetic atlas, clinicians may be able to detect hidden cholesterol risks early on and provide lifestyle advice or prescribe medications before it is too late. The study has the potential to change the future of heart disease prediction and prevention around the world, much like BRCA testing changed the way cancer is treated.
Knowing your genetics could be the key to saving your heart. The new genetic resource is giving doctors a better picture of who is at risk, even when traditional tests cannot detect the warning signs; there is hope that, in the future, heart attacks will be prevented rather than treated.
Reference:
- Study Links Genetic Variants to Higher ‘Bad’ Cholesterol and Heart Attack Risk – (https://www.upmc.com/media/news/103025-heart-attack-risk)
Source-University of Pittsburgh