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Hyderabad: Researchers at the University of Colorado School of Medicine on Tuesday said they have discovered a strong association between a genetic mutation and a rare heart muscle disease called left ventricular noncompaction (LVNC).

The researchers sequenced nearly 5,000 genes in 335 patients with a family history of LVNC, looking for mutations that could cause a variety of cardiomyopathies and found that several people with LVNC had a mutation in a gene called Obscurin.

Obscurin 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 execute properly.

The finding, published this week in the Journal of the American College of Cardiology, could improve understanding of the disease and lead to new treatments.

Cardiomyopathy is a condition where the heart muscle is abnormal. Cardiomyopathy makes it harder for your heart to pump and deliver blood to the rest of your body, and can lead to heart failure.

“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 Teisha J. Rowland, a post-doctoral fellow in the lab of Luisa Mestroni and Matthew Taylor at the University of Colorado School of Medicine and first author of the study.

“So we look at the DNA in entire families to see what sort of genetic variants those with the illness have in common; and found a strong association between this gene, which has not been studied much, and this rare form of genetic heart disease," Rowland said. Rowland is an expert of genetics and cardiology.

“Left ventricular noncompaction is thought to happen during early human development. It would be interesting to see if mutated Obscurin affects heart formation during development."

Rowland said the findings point to areas warranting further attention.

“We expect this will ultimately improve our understanding of the disease," she said.

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