Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers take important step in unlocking what causes congenital heart disease

13.05.2013
Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect.

The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart. Congenital heart disease can cause infants to be born with structural heart problems, which can be serious or even life-threatening.

The findings, which were published online today in the journal Nature, will inform future research into the causes of congenital heart disease.

This research was conducted through the National Heart, Lung, and Blood Institute- (NHLBI) supported Pediatric Cardiac Genomics Consortium, an international, multi-center collaborative research effort. The NHLBI is part of the National Institutes of Health.

The researchers looked at 362 parent-offspring trios, each of which included a child with congenital heart disease and his or her healthy parents, as well as 264 healthy parent-offspring trios, which served as the control group. The team conducted an analysis using state-of-the-art sequencing and genome mapping techniques and found that the children with congenital heart disease had a greatly increased rate of spontaneous mutations among genes that are highly expressed, or active, in the developing heart. Specifically, the analysis found that about 10 percent of the participant cases were associated with spontaneous mutations that arise during fetal development. Many of these genes were involved in a specific pathway that controls and regulates gene expression, which provides some insight into how the defects arise.

The Pediatric Cardiac Genomics Consortium provided resources to recruit thousands of patients in a small amount of time and used advanced sequencing techniques to identify genes that are implicated in congenital heart disease.

Future research aims to better understand how congenital heart disease develops in order to improve treatment and perhaps eventually prevent congenital heart disease in the early stages of heart formation.

Jonathan R. Kaltman, M.D., chief of the Heart Development and Structural Diseases Branch in the NHLBI's Division of Cardiovascular Sciences and coauthor of the paper, is available to comment on the findings and implications of this research.

For Dr. Kaltman's complete bio, please visit: http://www.nhlbi.nih.gov/news/spokespeople/kaltman-jonathan.html

For a complete list of the Pediatric Cardiac Genomics Consortium Centers involved in this effort, please visit: http://www.benchtobassinet.net/PCGCcenters.asp

Supplemental Information:
NHLBI Bench to Bassinet program website
http://www.benchtobassinet.net/
Health Topic: What are congenital heart defects?
http://www.nhlbi.nih.gov/health/health-topics/topics/chd/
NHLBI Story of Success: Congenital heart disease
http://www.nhlbi.nih.gov/news/spotlight/success/congenital-heart-disease.html
Media availability: Bench to bassinet program seeks congenital heart disease treatments
http://www.nih.gov/news/health/mar2010/nhlbi-16.htm
Children and Clinical Studies website
http://www.nhlbi.nih.gov/childrenandclinicalstudies/index.php
Part of the National Institutes of Health, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The Institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI press releases and other materials are available online at http://www.nhlbi.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIH...Turning Discovery Into Health

NHLBI Communications Office | EurekAlert!
Further information:
http://www.nhlbi.nih.gov

More articles from Health and Medicine:

nachricht GLUT5 fluorescent probe fingerprints cancer cells
20.04.2018 | Michigan Technological University

nachricht Scientists re-create brain neurons to study obesity and personalize treatment
20.04.2018 | Cedars-Sinai Medical Center

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Spider silk key to new bone-fixing composite

University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.

Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.

Im Focus: Writing and deleting magnets with lasers

Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.

Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...

Im Focus: Gamma-ray flashes from plasma filaments

Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.

The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...

Im Focus: Basel researchers succeed in cultivating cartilage from stem cells

Stable joint cartilage can be produced from adult stem cells originating from bone marrow. This is made possible by inducing specific molecular processes occurring during embryonic cartilage formation, as researchers from the University and University Hospital of Basel report in the scientific journal PNAS.

Certain mesenchymal stem/stromal cells from the bone marrow of adults are considered extremely promising for skeletal tissue regeneration. These adult stem...

Im Focus: Like a wedge in a hinge

Researchers lay groundwork to tailor drugs for new targets in cancer therapy

In the fight against cancer, scientists are developing new drugs to hit tumor cells at so far unused weak points. Such a “sore spot” is the protein complex...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

IWOLIA: A conference bringing together German Industrie 4.0 and French Industrie du Futur

09.04.2018 | Event News

 
Latest News

Magnetic nano-imaging on a table top

20.04.2018 | Physics and Astronomy

Start of work for the world's largest electric truck

20.04.2018 | Interdisciplinary Research

Atoms may hum a tune from grand cosmic symphony

20.04.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>