Researchers at the Mayo Clinic have made a significant breakthrough in the study of dilated cardiomyopathy, one of the leading causes of heart failure, by identifying a specific gene that could be targeted for future drug therapy treatments.
Dilated cardiomyopathy is a condition that makes it challenging for the heart’s left ventricle to pump blood to the rest of the body effectively.
It affects a substantial number of individuals and is a leading cause of heart failure.
In their pioneering genome-wide association study, recently published in Circulation Research, the research team aimed to understand why some patients experience improvements after developing dilated cardiomyopathy while others do not.
Lead author Dr. Naveen Pereira, a Mayo Clinic cardiologist specializing in genetic variation and its implications in diagnosing and treating cardiovascular disease, revealed their findings.
They identified a connection between genetic variation in the CDCP1 gene and the improvement of heart function in patients with dilated cardiomyopathy.
The CDCP1 gene’s genetic variation can lead to differences in the protein structure it encodes, potentially affecting a person’s susceptibility to various diseases and their response to specific therapies.
The researchers focused on the CDCP1 gene because it enhances the heart’s left ventricle’s ability to pump blood efficiently in individuals with dilated cardiomyopathy.
The gene is often expressed variably in fibroblasts (connective tissue cells) of patients with this condition.
Fibrosis, the accumulation of excess fibrous connective tissue in the heart, is crucial to the disease’s prognosis.
Notably, the study also found a significant association between genetic variation in or near the CDCP1 gene and heart failure-related deaths.
Furthermore, the researchers observed that reducing the expression of this gene in cardiac connective tissue significantly decreased the proliferation of cardiac fibroblasts and downregulated the IL1RL1 gene.
This gene encodes sST2, one of the most important biomarkers for heart failure. Elevated levels of sST2 are linked to fibrosis and mortality, and decreasing CDCP1’s expression reduces the production of this protein.
Understanding the interplay between sST2, CDCP1, and fibrosis is crucial for developing strategies to mitigate the adverse effects of heart failure.
Dr. Pereira explained that these findings allow targeting the CDCP1 gene to reduce cardiac fibrosis, potentially improving heart function.
Consequently, the study holds promise for developing new drug therapies for dilated cardiomyopathy and other conditions characterized by fibrosis.
Heart failure is a growing health concern in the United States, with an estimated 8 million people projected to be affected by 2030, representing a 46% increase from current numbers.
Dilated cardiomyopathy accounts for 30% to 40% of heart failure cases and is the most common reason for heart transplantation.
Dr. Pereira emphasized, “A key indicator of whether patients with dilated cardiomyopathy will recover is whether they have cardiac fibrosis.”
Building upon these initial findings, Mayo Clinic researchers are conducting further animal studies to explore the impact of the CDCP1 gene on heart failure.
They also develop molecules to assess their potential for therapeutic use in dilated cardiomyopathy and heart failure.
Dr. Pereira concluded, “By continuing this research from a human population to the molecular and animal laboratory levels, we hope to discover new treatment avenues that can ultimately improve patients’ survival and quality of life.”
If you care about heart health, please read studies about Scientists find a new cause of heart rhythm disorders and findings of Eating just one cup of nitrate-rich vegetables daily can reduce heart disease risk.
If you care about heart health, please read studies that vitamin K helps cut heart disease risk by a third, and a year of exercise reversed worrisome heart failure.
The research findings can be found in Circulation Research.
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