Groundbreaking genetic discovery could prevent heart disease, study finds
An international consortium of scientists made a groundbreaking discovery that promises significant advancements in cardiovascular health.
Nearly a dozen genes, previously unlinked to coronary artery health, have been identified as contributors to the accumulation of calcium. (CREDIT: Creative Commons)
An international consortium of scientists made a groundbreaking discovery that promises significant advancements in cardiovascular health.
Nearly a dozen genes, previously unlinked to coronary artery health, have been identified as contributors to the perilous accumulation of calcium in our coronary arteries. Such buildup can culminate in coronary artery disease (CAD) - a lethal affliction responsible for one in every four deaths in the United States.
The Silent Assassin: Coronary Artery Calcification
Coronary artery calcification (CAC) can be seen as the silent marker of a looming cardiovascular disaster. CAC is an indicator of subclinical coronary atherosclerosis—a condition that precedes overt atherosclerotic coronary artery disease. Utilizing non-invasive computed tomography (CT) scans, medical professionals can discern calcium accretions within the walls of coronary arteries.
Study summary. Coronary artery calcification (CAC), a measure of subclinical atherosclerosis, predicts future symptomatic coronary artery disease (CAD). (CREDIT: Nature)
Apart from its direct cardiovascular implications, the calcium buildup also serves as a harrowing precursor to other age-related conditions, including dementia, cancer, chronic kidney disease, and even the disconcerting occurrence of hip fractures.
A Historic Endeavour: Unraveling the Genetic Factors
Despite understanding the hereditary dimensions of coronary calcium accumulation, only a smattering of genes had previously been acknowledged as contributors. Dr. Clint L. Miller, PhD, affiliated with the esteemed University of Virginia School of Medicine’s Center for Public Health Genomics, asserted: “By sharing valuable genotype and phenotype datasets collected over many years, our team was able to uncover new genes that may foreshadow clinical coronary artery disease.”
Schematic of CAC candidate genes and approved or investigational drugs. (CREDIT: Nature)
To breach this genetic frontier, Miller, in tandem with international collaborators, embarked on an ambitious project. Data from a staggering 35,000 individuals, hailing from both European and African ancestral backgrounds, became the bedrock of this extensive meta-analysis.
Miller said, “Coronary artery calcification reflects the vessel’s accumulation of lifetime exposure to risk factors.” Although previous explorations over the past decade had spotlighted several genes, Miller emphasized the imperative for broader and more inclusive research to truly decode the intricate pathways contributing to CAC.
Their rigorous approach bore fruit: over 40 candidate genes spanning 11 distinct chromosomal locations, all correlating with coronary artery calcification, were unearthed.
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The novelty of these findings was underscored by the fact that eight of these genetic locations had never before been associated with coronary calcification. Further, five were entirely new discoveries in the broader context of coronary artery disease.
Several genes, like ENPP1, had been previously documented in rare arterial calcifications in infants. But now, its broader implications became clear. Moreover, the exploration illuminated genes within the adenosine signaling pathway, a known inhibitor of arterial calcification.
From Lab to Clinic: The Road Ahead
With this fresh genetic panorama laid out, the challenge and opportunity now is in therapeutic translation. These genetic insights could pave the way for precision medicine, where specific genes or their resultant proteins could be targeted using drugs, potentially curtailing the progression of CAD.
Immunofluorescence staining showing localization of ENPP1, IGFBP3, ARID5B and ADK in control and atherosclerotic human coronary arteries. (CREDIT: Nature)
Interestingly, some genes might even be influenced through dietary modifications or supplementation, creating a holistic approach that marries pharmacology with nutrition. Vitamins C and D, for instance, could emerge as potential agents in this battle against CAD.
Miller, with optimism, conveyed the potential of this groundbreaking research, “We look forward to continued progress in translating these preliminary findings to the clinic, and also to identifying additional genes that could generalize risk prediction across more diverse populations.”
These discoveries hold monumental implications. By proactively identifying and managing genetic risks, we stand on the cusp of redefining cardiac care. In a world where coronary artery disease claims over 17 million lives annually, these genetic revelations could truly be a paradigm shift, setting us on a path towards a healthier, heartier future.
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