Scientists from the University of Cincinnati (Ohio, USA) have identified a variant of the heart protein that can be associated with heart rhythm disturbances and lead to sudden death. The discovery may serve for early diagnosis and treatment of patients with cardiovascular diseases.
This is the first gene mutation among calcium-associated proteins (rich in the amino acid histidine) to show an association between ventricular arrhythmia and sudden cardiac death in patients with dilated cardiomyopathy*.
A team of scientists led by Vivek Singh and led by Litsa Kranias, from the Department of Pharmacology and Cellular Biophysics at the University of Cincinnati, found that patients with an altered protein responsible for controlling calcium in heart cells are at risk for sudden cardiac death. “The histidine (amino acid)-rich calcium-related protein (HRC), a regulator of calcium uptake and release in cardiac muscle tissue, plays an important role in muscle contraction and relaxation by releasing or accumulating calcium ions,” Singh is quoted as saying.
These findings may help to understand how to control calcium regulation, which could lead to new therapies. “The results showed that the mutated HRC protein exhibited altered intracellular calcium circulation resulting in slower uptake and increased calcium leakage, which can cause arrhythmia under stress. This new discovery is important because we can use this information to develop new methods for monitoring patients and preventing the development of arrhythmia, ”says the scientist.
*Dilated cardiomyopathy https://en.wikipedia.org/wiki/Dilated_cardiomyopathy is a condition in which the heart becomes weak, enlarges and is no longer able to pump blood effectively.
