Featured Research

from universities, journals, and other organizations

Genetic variant increases risk of heart rhythm dysfunction, sudden death

Date:
May 30, 2012
Source:
University of Cincinnati Academic Health Center
Summary:
Cardiovascular researchers have identified a genetic variant in a cardiac protein that can be linked to heart rhythm dysfunction.

Cardiovascular researchers at the University of Cincinnati have identified a genetic variant in a cardiac protein that can be linked to heart rhythm dysfunction.

This is the first genetic variant in a calcium-binding protein (histidine-rich calcium binding protein) found to be associated with ventricular arrhythmias and sudden cardiac death in dilated cardiomyopathy patients, opening up new possibilities for treatment.

Dilated cardiomyopathy is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently.

These findings are being presented for the first time at the International Society of Heart Research's Pathology and Treatment of Heart Failure meeting in Banff, Alberta, held May 27 through May 31, 2012.

The team led by Vivek Singh, PhD, a research scientist under the direction of Litsa Kranias, PhD, in the department of pharmacology and cell biophysics at UC, says that sudden cardiac death is a risk for patients with heart failure who are carriers of this variant in the histidine-rich calcium-binding protein because the calcium inside their heart cells is not properly controlled, possibly leading to the development of arrhythmias.

"The histidine-rich calcium-binding protein (HRC) is a regulator of calcium uptake and release in the sarcoplasmic reticulum, a network of tubes and sacs in heart muscle fibers that plays an important role in heart contraction and relaxation by releasing and storing calcium ions," Singh says.

"Recently, our group at UC and Athens, Greece, identified a genetic variant in HRC, named Ser96Ala, which showed a significant association with worsening ventricular arrhythmias and sudden cardiac death in a group of patients with idiopathic dilated cardiomyopathy. In this study, our team characterized the mechanisms and pathways that link the HRC variant with arrhythmias causing sudden death."

Researchers first generated animal models with cardiac-specific expression of the human normal (S96S) or altered (A96A) HRC.

"Unexpectedly, we found that contractility of heart cells significantly decreased with disturbed calcium regulation in A96A hearts when compared with S96S hearts," Singh says. "In addition, A96A heart cells showed more arrhythmic behavior under stress conditions."

Singh says this data could eventually provide new insights into pathways that control calcium regulation, leading to the development of new clinical interventions.

"Our results showed that the human HRC mutant model displayed altered intracellular calcium (Ca2+) handling, associated with slowed Ca2+ uptake and increased Ca2+ leak, which may promote arrhythmias under stress," Singh says. "These new findings are important because we can use this information to help develop new methods of screening human patients and preventing arrhythmia development in the carriers."

This study was funded by an American Heart Association Fellowship Award and the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health.


Story Source:

The above story is based on materials provided by University of Cincinnati Academic Health Center. Note: Materials may be edited for content and length.


Cite This Page:

University of Cincinnati Academic Health Center. "Genetic variant increases risk of heart rhythm dysfunction, sudden death." ScienceDaily. ScienceDaily, 30 May 2012. <www.sciencedaily.com/releases/2012/05/120530133703.htm>.
University of Cincinnati Academic Health Center. (2012, May 30). Genetic variant increases risk of heart rhythm dysfunction, sudden death. ScienceDaily. Retrieved July 28, 2014 from www.sciencedaily.com/releases/2012/05/120530133703.htm
University of Cincinnati Academic Health Center. "Genetic variant increases risk of heart rhythm dysfunction, sudden death." ScienceDaily. www.sciencedaily.com/releases/2012/05/120530133703.htm (accessed July 28, 2014).

Share This




More Health & Medicine News

Monday, July 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins