Navigation Links
Study identifies second gene associated with specific congenital heart defects
Date:4/29/2011

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."


'/>"/>

Contact: Mary Ellen Peacock
MaryEllen.Peacock@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

Related medicine news :

1. Despite Treatment, Employees with Depression Generate Higher Absentee Costs, According to Thomson Reuters Study
2. American Council on Exercise (ACE) Study Reveals Kettlebells Provide Powerful Workout in Short Amount of Time
3. TV drama can be more persuasive than news program, study finds
4. Study carried out into biological risks of eating reptiles
5. Neuroimaging study may pave way for effective Alzheimers treatments
6. Study finds racial gaps continue in heart disease awareness
7. Luth Researchs IndicatorEDG(TM) Study Finds Americans Hopes of Achieving Their Dreams Are Fading
8. First blinded study of venous insufficiency prevalence in MS shows promising results
9. Soothing infants with food focus of childhood obesity study
10. People with anxiety disorder less able to regulate response to negative emotions, study shows
11. American Heart Association Rapid Access Journal Report: Study Finds Racial Gaps Continue in Heart Disease Awareness, Low Knowledge of Heart Attack Warning Signs Among Women
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/2/2016)... ... December 02, 2016 , ... FlexiSpot, a trusted name in ... trial program for all of the company’s desktop riser products. A simple application ... experience. , FlexiSpot’s unique desktop risers use an advanced dual gas spring hovering ...
(Date:12/2/2016)... New York, NY (PRWEB) , ... December 02, ... ... today, featuring an inspirational interview of two ostomy patients, standing as living proof ... million people suffer from digestive diseases and issues that spike around the holidays. ...
(Date:12/2/2016)... Hawaii (PRWEB) , ... December 02, 2016 , ... ... 2016 at the Hyatt Regency Waikiki Beach Resort and Spa in Honolulu, offering ... in the field of pain management. , The demand for supplemental training ...
(Date:12/2/2016)... , ... December 02, 2016 , ... "Pro3rd Accents Volume ... editors to create versatile lower third titles with just a few clicks of the ... Volume 2 includes 30 lower third animations. Choose from various styles with accented animations, ...
(Date:12/2/2016)... ... December 02, 2016 , ... ‘Tis the season for giving! Today, 20 creative ... National Family Partnership and the Drug Enforcement Administration as part of the National Red ... 10 winning schools who decorated their campuses with this year’s Red Ribbon Week theme: ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... Spain , Dec. 2, 2016 In ... natural sources apart from those derived from C. sativa, ... the Universita` di Napoli Federico II , the ... created the first comprehensive, critical, integrated and unified inventory ... The article focuses on the remarkable chemical and ...
(Date:12/2/2016)... Dec. 2, 2016  The Addiction Treatment Advisory ... of Managed Care Pharmacy (AMCP), has released detailed ... address the opioid addiction crisis, including through improved ... ATAG,s newly released paper, "The Role ... Naloxone," addresses many issues around gaps and barriers ...
(Date:12/2/2016)... , Dec. 2, 2016  Maxor National Pharmacy Services, LLC ... Pharmaceutical Specialties, Inc. ("PSI").  The combination of Texas ... Georgia -based PSI bring together both company,s clinical expertise ... and payers an industry-leading specialty pharmacy. About Maxor ... , , ...
Breaking Medicine Technology: