Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


New mouse model helps explain gene discovery in congenital heart disease

Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital study appearing in PLoS Genetics suggests that abnormal development of heart cells during embryogenesis may be to blame.

When babies are born with a hole in their heart (either between the upper or lower chambers), they have a septal defect, the most common form of congenital heart disease. Although it's not clear what causes all septal defects, genetic studies primarily utilizing large families have led to the discovery of several causative genes.

Vidu Garg, MD, the study's lead author, previously reported that a single nucleotide change in the GATA4 gene in humans causes atrial and ventricular septal defects along with pulmonary valve stenosis. In mice, the GATA4 gene has been shown to be necessary for normal heart development and its deletion leads to abnormal heart development.

"While GATA4 has been shown to be important for several critical processes during early heart formation, the mechanism for the heart malformations found in humans with the mutation we previously reported is not well understood," said Dr. Garg, a pediatric cardiologist in The Heart Center and principal investigator in the Center for Cardiovascular and Pulmonary Research at The Research Institute at Nationwide Children's Hospital.

To better characterize the mutation, Dr. Garg and colleagues generated a mouse model harboring the same human disease-causing mutation. They saw heart abnormalities in the mice that were consistent with those seen in humans with GATA4 mutations. Upon further examination, they found that the mutant protein leads to functional deficits in the ability for heart cells to increase in number during embryonic development.

"Our findings suggest that cardiomyocyte proliferation deficits could be a mechanism for the septal defects seen in this mouse model and may contribute to septal defects in humans with mutations in GATA4," said Dr. Garg, also a faculty member at The Ohio State University College of Medicine. "This mouse model will be valuable in studying how septation and heart valve defects arise and serve as a useful tool to study the impact of environmental factors on GATA4 functions during heart development."

Mary Ellen Peacock | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Biologists unravel another mystery of what makes DNA go 'loopy'
16.03.2018 | Emory Health Sciences

nachricht Scientists map the portal to the cell's nucleus
16.03.2018 | Rockefeller University

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Locomotion control with photopigments

Researchers from Göttingen University discover additional function of opsins

Animal photoreceptors capture light with photopigments. Researchers from the University of Göttingen have now discovered that these photopigments fulfill an...

Im Focus: Surveying the Arctic: Tracking down carbon particles

Researchers embark on aerial campaign over Northeast Greenland

On 15 March, the AWI research aeroplane Polar 5 will depart for Greenland. Concentrating on the furthest northeast region of the island, an international team...

Im Focus: Unique Insights into the Antarctic Ice Shelf System

Data collected on ocean-ice interactions in the little-researched regions of the far south

The world’s second-largest ice shelf was the destination for a Polarstern expedition that ended in Punta Arenas, Chile on 14th March 2018. Oceanographers from...

Im Focus: ILA 2018: Laser alternative to hexavalent chromium coating

At the 2018 ILA Berlin Air Show from April 25–29, the Fraunhofer Institute for Laser Technology ILT is showcasing extreme high-speed Laser Material Deposition (EHLA): A video documents how for metal components that are highly loaded, EHLA has already proved itself as an alternative to hard chrome plating, which is now allowed only under special conditions.

When the EU restricted the use of hexavalent chromium compounds to special applications requiring authorization, the move prompted a rethink in the surface...

Im Focus: Radar for navigation support from autonomous flying drones

At the ILA Berlin, hall 4, booth 202, Fraunhofer FHR will present two radar sensors for navigation support of drones. The sensors are valuable components in the implementation of autonomous flying drones: they function as obstacle detectors to prevent collisions. Radar sensors also operate reliably in restricted visibility, e.g. in foggy or dusty conditions. Due to their ability to measure distances with high precision, the radar sensors can also be used as altimeters when other sources of information such as barometers or GPS are not available or cannot operate optimally.

Drones play an increasingly important role in the area of logistics and services. Well-known logistic companies place great hope in these compact, aerial...

All Focus news of the innovation-report >>>



Industry & Economy
Event News

Ultrafast Wireless and Chip Design at the DATE Conference in Dresden

16.03.2018 | Event News

International Tinnitus Conference of the Tinnitus Research Initiative in Regensburg

13.03.2018 | Event News

International Virtual Reality Conference “IEEE VR 2018” comes to Reutlingen, Germany

08.03.2018 | Event News

Latest News

Wandering greenhouse gas

16.03.2018 | Earth Sciences

'Frequency combs' ID chemicals within the mid-infrared spectral region

16.03.2018 | Physics and Astronomy

Biologists unravel another mystery of what makes DNA go 'loopy'

16.03.2018 | Life Sciences

Science & Research
Overview of more VideoLinks >>>