Scientists Identify New Mutations in Gene that Weakens the Heart Muscle

Tuesday, November 19, 2019 - 14:09

Researchers of the Intermountain Healthcare Heart Institute in Salt Lake City have discovered new mutations in a gene commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart muscle.

According to the Science Daily report, in a new study presented to heart experts from around the world, researchers from the Intermountain Healthcare Heart Institute have identified 22 mutations in 27 of 229 NIDC patients in a gene called TITIN -- 15 of them not previously discovered.

These discoveries depended on applying advanced "whole exome sequencing." These TITIN mutations are of a type called "truncating variants," or TTN-tv for short, which are linked with the development of cardiomyopathy and heart failure.

"Truncating mutations in TITIN are common in NIDC, so we wanted to know: if we find one, should we be more, or less worried about the patient's prognosis? The answer is yes," said Jeffrey L. Anderson, principal investigator of the study and distinguished clinical and research physician at the Intermountain Healthcare Heart Institute.

In the study, the DNA samples of the 229 Intermountain patients diagnosed with NIDC were analyzed. Researchers also identified lifestyle, environmental and other disease factors documented in the medical records that are associated with heart problems, like high blood pressure, diabetes, a history of alcohol or drug abuse, or previous chemotherapy treatment. Patients were evaluated when they first presented and then were followed for five years.

Findings from the study were presented at the 2019 American Heart Association Scientific Sessions in Philadelphia on Nov. 17, 2019

Other members of the research team include: Victoria Jacobs, Bryce Christensen, Helaman Escobar, Benjamin D Horne, Kia Afshar, Virginia Hebl, Kirk U Knowlton, J Brent Muhlestein, John Carlquist, and Lincoln Nadauld.


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