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In a new study by the Intermountain Healthcare Heart Institute in Salt Lake City, researchers identified eight new genetic mutations that could cause or contribute to dilated idiopathic cardiomyopathy, a form of heart disease not caused by known external influences, such as that hypertension, obesity, smoking or sick coronary arteries.
For at least 40% of these patients, the disease has an underlying genetic cause that causes the muscle in the main pumping chamber of the heart (left ventricle) to be too weak and too thin to function properly, resulting in heart failure. .
"Although many mutations contributing to non-ischemic dilated cardiomyopathy have been identified, our knowledge of heritability remains largely skewed.The more we can learn more about what causes the disease, the better we can identify and treat it. "said Jeffrey L. Anderson, MD, senior research scientist and researcher at the Intermountain Healthcare Heart Institute. "If this is pbaded on to families, we will be able to identify people who may develop heart disease and work to prevent it, diagnose it, and start treatment sooner."
The results of the study will be presented at the annual scientific session of the American College of Cardiology in New Orleans on March 18, 2019.
A quarter to a third of patients with idiopathic dilated cardiomyopathy will require a mechanical badistance device, a heart transplant, or will die within five years, noted Dr. Anderson. It is therefore a very serious illness.
As part of this study, researchers examined genetic samples from 231 patients with dilated idiopathic cardiomyopathy, evaluated in a specialized clinic at the Intermountain Medical Center, who volunteered to introduce blood samples into the INSPIRE registry. of Intermountain Healthcare and in the DNA bank, system for collecting biological samples from the system. clinical information and laboratory data from consenting patients diagnosed with a number of health care related conditions.
In collaboration with the Intermountain Genomic Precision Lab, researchers sequenced patients' DNA, focusing on the TITIN gene (TNN), which encodes the body's largest protein.
"This protein acts as a spring in your heart muscle," said Dr. Anderson. "It improves the pbadive elasticity of the muscle and also limits the ability to stretch it."
Previous research had previously found variants of TTNin patients with dilated idiopathic cardiomyopathy, but the story is incomplete.
Now, in this new study, Intermountain researchers identified 24 patients with variants of TTN, and eight of these variants had never been seen or documented before. They also confirmed the presence of seven variants discovered and reported previously. The new variants all belong to the "truncating" category, that is to say that they cause a shortening of the protein and, in doing so, should cause a dysfunction of the protein in its role of maintenance of the integrity of the heart muscle function.
According to Dr. Anderson, these new variants will still require functional testing and clinical validation, but they will likely lead to further expansion of the known spectrum of genes predisposing to dilated idiopathic cardiomyopathy.
The addition of these variants to the current list of known pathological mutations of cardiac muscle proteins will help bridge the still large gap that exists between our knowledge of the heritability of heart muscle diseases and hence allow earlier diagnosis and more effective prevention and treatment.
The study was funded by the Intermountain Foundation and an in-kind grant from Intermountain Precision Genomics.
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Material provided by Intermountain Medical Center. Note: Content can be changed for style and length.
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