Featured Research

from universities, journals, and other organizations

Novel Gene Found For Dilated Cardiomyopathy

Date:
July 22, 2009
Source:
Cincinnati Children's Hospital Medical Center
Summary:
Researchers have discovered a novel gene responsible for heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy.

Researchers in the Heart Institute at Cincinnati Children's Hospital Medical Center have discovered a novel gene responsible for heart muscle disease and chronic heart failure in some children and adults with dilated cardiomyopathy (DCM).

Mutations in the ANKRD1 gene may cause DCM, which is the most common cause of chronic heart failure in young people and the most common reason for heart transplant. ANKRD1 is a gene that encodes a protein that plays a role in the structure and functional ability of the heart.

The study, conducted internationally, is published in the July 21 issue of the Journal of the American College of Cardiology, which goes online July 13.

"Our study indicates that variants in ANKRD1 result in dysfunction of the contraction apparatus and signaling machinery of the heart – the method by which cells communicate to influence heart function," says Jeffrey Towbin, M.D., co-director of the Heart Institute and director of cardiology at Cincinnati Children's. "This clarifies the mechanisms by which these inherited mutations cause disease in a subset of DCM patients."

DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood efficiently. The decreased heart function can affect the lungs, liver, kidneys and other body systems. DCM is one of the cardiomyopathies, a group of diseases that primarily affect the heart muscle. Cardiomyopathies have different causes and affect the heart in a variety of ways. In DCM the major pumping chamber of the heart, the left ventricle, is dilated, often without any obvious cause.

DCM occurs more frequently in men than in women and is most common between the ages of 20 and 60 years, although it also occurs in fetuses, newborns and children. About one in three cases of congestive heart failure is due to DCM, which also occurs in children.

Dr. Towbin and his colleagues screened 208 patients, mostly children and young adults, with DCM for gene mutations. They found three, disease-associated variants of the ANKRD1 gene. All four patients carrying the variants were male. This prevalence rate is consistent with prevalence data for most of the other known genes associated with DCM. This finding confirms previous gene discoveries by Dr. Towbin's group. It also "provides us with a better understanding of the causes and mechanisms involved in the development of this disease and will enable better genetic testing and new treatments to be devised to improve outcomes of this serious disease," according to Dr. Towbin.

The study was funded by grants from the National Institutes of Health, the Children's Cardiomyopathy Foundation and the Abby Glaser Children's Heart Fund. Collaborating institutions included Texas Children's Hospital and Baylor College of Medicine in Houston, the Medical Faculty Mannheim at the University of Heidelberg in Germany, the Institute of Cardiovascular Science and University College in London in the United Kingdom, and the Tokyo Medical and Dental University in Japan.

Dr. Tobwin is co-author of another study in the same issue of JACC showing that the ANKRD1 gene also causes a different clinical form of cardiomyopathy.


Story Source:

The above story is based on materials provided by Cincinnati Children's Hospital Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Cincinnati Children's Hospital Medical Center. "Novel Gene Found For Dilated Cardiomyopathy." ScienceDaily. ScienceDaily, 22 July 2009. <www.sciencedaily.com/releases/2009/07/090713201430.htm>.
Cincinnati Children's Hospital Medical Center. (2009, July 22). Novel Gene Found For Dilated Cardiomyopathy. ScienceDaily. Retrieved September 1, 2014 from www.sciencedaily.com/releases/2009/07/090713201430.htm
Cincinnati Children's Hospital Medical Center. "Novel Gene Found For Dilated Cardiomyopathy." ScienceDaily. www.sciencedaily.com/releases/2009/07/090713201430.htm (accessed September 1, 2014).

Share This




More Health & Medicine News

Monday, September 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Get on Your Bike! London Cycling Popularity Soars Despite Danger

Get on Your Bike! London Cycling Popularity Soars Despite Danger

AFP (Sep. 1, 2014) Wedged between buses, lorries and cars, cycling in London isn't for the faint hearted. Nevertheless the number of people choosing to bike in the British capital has doubled over the past 15 years. Duration: 02:27 Video provided by AFP
Powered by NewsLook.com
We've Got Mites Living In Our Faces And So Do You

We've Got Mites Living In Our Faces And So Do You

Newsy (Aug. 30, 2014) A new study suggests 100 percent of adult humans (those over 18 years of age) have Demodex mites living in their faces. Video provided by Newsy
Powered by NewsLook.com
Liberia Continues Fight Against Ebola

Liberia Continues Fight Against Ebola

AFP (Aug. 30, 2014) Authorities in Liberia try to stem the spread of the Ebola epidemic by raising awareness and setting up sanitation units for people to wash their hands. Duration: 00:41 Video provided by AFP
Powered by NewsLook.com
California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

California Passes 'yes-Means-Yes' Campus Sexual Assault Bill

Reuters - US Online Video (Aug. 30, 2014) California lawmakers pass a bill requiring universities to adopt "affirmative consent" language in their definitions of consensual sex, part of a nationwide drive to curb sexual assault on campuses. Linda So reports. Video provided by Reuters
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