Mutation in Obscurin Detected in Certain Patients with Left Ventricular Compaction

A strong association between a genetic mutation and a rare kind of heart muscle disease has been discovered by researchers at the University of Colorado Anschutz Medical Campus. The finding, published online on November 15, 2016 in the Journal of the American College of Cardiology, could improve understanding of the disease and lead to new treatments. The article is titled “Obscurin Variants in Patients with Left Ventricular Noncompaction.” "There are many kinds of cardiomyopathies that can lead to heart failure so this is a serious problem," said Teisha J. Rowland, Ph.D., a post-doctoral fellow in the lab of Luisa Mestroni, M.D., and Matthew R. G. Taylor, M.D., Ph.D., at the University of Colorado School of Medicine and first author of the study. The Mestroni and Taylor lab sequenced nearly 5,000 genes in 335 patients with a family history of heart muscle disease, looking for mutations that could cause a variety of cardiomyopathies. "Many kinds of heart disease are caused by genetics. When that happens, the disease is often more severe and happens at an earlier age," said Dr. Rowland, who studies genetics and cardiology. "So we look at the DNA in entire families to see what sort of genetic variants those with the illness have in common." The scientists found that several people with left ventricular noncompaction (LVNC) had a mutation in a gene called obscurin. The obscurin protein is part of the sarcomere, the basic unit of striated muscles that pull and glide past each other when muscles contract. That includes the heart muscle. If there is a mutation in obscurin that process may not function properly. "We found a strong association between this gene, which has not been studied much, and this rare form of genetic heart disease," Dr. Rowland said. "Left ventricular noncompaction is thought to happen during early human development.
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