Featured Research

from universities, journals, and other organizations

Second gene associated with specific congenital heart defects identified

Date:
April 30, 2011
Source:
Nationwide Children's Hospital
Summary:
A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract.

A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted by Nationwide Children's Hospital and appearing in the journal Birth Defects Research Part A.

Left ventricular outflow tract (LVOT) malformations, including aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome, Shone complex and interrupted aortic arch type A, are responsible for a major portion of childhood death from congenital heart malformations. Yet it is often unclear how these defects develop.

"While 10 to 15 percent of people with an LVOT defect have a chromosomal defect such as Turner syndrome, the causes for most LVOT defects remain unknown," said one of the study's authors Kim McBride, MD, MS, principal investigator in the Center for Molecular and Human Genetics at The Research Institute at Nationwide Children's Hospital.

Recent studies suggest a genetic component to these heart malformations. Aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome and bicuspid aortic valve have been reported to recur within single families. Nationwide Children's faculty has also identified several chromosomal regions that show evidence of being linked to LVOT malformations.

"It is estimated that there are more than 500 genes that may be important in heart development," said Dr. McBride, also a faculty member at The Ohio State University College of Medicine. "Changes in any of these genes may impact how a child's heart forms."

To identify specific genes, investigators examined the DNA of children treated for LVOT malformations and their parents, enrolled by Dr. McBride at Nationwide Children's Hospital or by Dr. John Belmont and his team in the Department of Molecular and Human Genetics, Baylor College of Medicine at Texas Children's Hospital. Research indicates that LVOT defects share a common developmental mechanism, thus they focused on genes from a signaling pathway shown to be important in cardiac development.

Findings showed an association between the gene ERBB4 and LVOT defects. ERBB4 encodes a protein that serves as an "on" or "off" switch in many cellular functions during heart development. The association with LVOT defects was noted not only for the whole group of defects, but also individually for aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome.

"The precise defect in this very large gene is not yet known," said Dr. McBride. "ERBB4 now joins a previously identified gene, NOTCH1, as a susceptibility gene for LVOT defects. Replication of these results in other subjects will be required to better determine its role in the development of the heart malformations."


Story Source:

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


Journal Reference:

  1. Kim L. McBride, Gloria A. Zender, Sara M. Fitzgerald-Butt, Nikki J. Seagraves, Susan D. Fernbach, Gladys Zapata, Mark Lewin, Jeffrey A. Towbin, John W. Belmont. Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Research Part A: Clinical and Molecular Teratology, 2011; 91 (3): 162 DOI: 10.1002/bdra.20764

Cite This Page:

Nationwide Children's Hospital. "Second gene associated with specific congenital heart defects identified." ScienceDaily. ScienceDaily, 30 April 2011. <www.sciencedaily.com/releases/2011/04/110429104538.htm>.
Nationwide Children's Hospital. (2011, April 30). Second gene associated with specific congenital heart defects identified. ScienceDaily. Retrieved July 23, 2014 from www.sciencedaily.com/releases/2011/04/110429104538.htm
Nationwide Children's Hospital. "Second gene associated with specific congenital heart defects identified." ScienceDaily. www.sciencedaily.com/releases/2011/04/110429104538.htm (accessed July 23, 2014).

Share This




More Health & Medicine News

Wednesday, July 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Idaho Boy Helps Brother With Disabilities Complete Triathlon

Newsy (July 23, 2014) An 8-year-old boy helped his younger brother, who has a rare genetic condition that's confined him to a wheelchair, finish a triathlon. Video provided by Newsy
Powered by NewsLook.com
Stone Fruit Listeria Scare Causes Sweeping Recall

Stone Fruit Listeria Scare Causes Sweeping Recall

Newsy (July 22, 2014) The Wawona Packing Company has issued a voluntary recall on the stone fruit it distributes due to a possible Listeria outbreak. Video provided by Newsy
Powered by NewsLook.com
Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Newsy (July 22, 2014) The 83 new genetic markers could open dozens of new avenues for schizophrenia treatment research. Video provided by Newsy
Powered by NewsLook.com
CDC Head Concerned About a Post-Antibiotic Era

CDC Head Concerned About a Post-Antibiotic Era

AP (July 22, 2014) Sounding alarms about the growing threat of antibiotic resistance, CDC Director Tom Frieden warned Tuesday if the global community does not confront the problem soon, the world will be living in a devastating post-antibiotic era. (July 22) 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