Navigation Links
New mouse model helps explain gene discovery in congenital heart disease
Date:6/26/2012

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."


'/>"/>

Contact: Mary Ellen Peacock
maryellen.peacock@nationwidechildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

Related medicine news :

1. Mouse Study Hints at New Path for Diabetes Treatment
2. This mousetrap may save lives
3. Its Not Just What You Eat, Its When You Eat, Mouse Study Finds
4. Belly Membrane May Regulate Immune System, Mouse Study Finds
5. Mouse Study Suggests Certain Fats Could Trigger Crohns, Colitis
6. Researchers develop a new cell and animal model of inflammatory breast cancer
7. Model for breast cancer rehab featured in supplement to ACS journal, Cancer
8. Research shows efficacy of treatment model developed at Women & Infants
9. HHS enlists Archimedes Inc. to expand governments use of health care modeling
10. Modeling the demise of migrating brain tumor cells
11. Super Models Line Up to Walk The Catwalk and Celebrate Vogue's Fashion Night Out in LA
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/26/2016)... ... 26, 2016 , ... Pixel Film Studios Released ProSlice Levels, a Media Slicing ... their videos a whole new perspective by using the title layers in ProSlice ... , ProSlice Levels contains over 30 Different presets to choose from. FCPX ...
(Date:6/26/2016)... (PRWEB) , ... June 26, 2016 , ... ... fertility once they have been diagnosed with endometriosis. These women need a treatment ... also require a comprehensive approach that can help for preservation of fertility and ...
(Date:6/25/2016)... , ... June 25, 2016 , ... The temporary closing of Bruton Memorial Library on ... Observer , brings up a new, often overlooked aspect of head lice: the parasite’s ability ... fumigation is not a common occurrence, but a necessary one in the event that lice ...
(Date:6/25/2016)... , ... June 25, 2016 , ... As a lifelong ... Cum Laude and his M.D from the David Geffen School of Medicine at UCLA. ... to Los Angeles to complete his fellowship in hematology/oncology at the UCLA-Olive View-Cedars Sinai ...
(Date:6/25/2016)... ... June 25, 2016 , ... Conventional wisdom preaches the benefits of ... of the latter, setting the bar too high can result in disappointment, perhaps even ... progress toward their goal. , Research from PsychTests.com reveals that behind ...
Breaking Medicine News(10 mins):
(Date:6/23/2016)... Capricor Therapeutics, Inc. ... company focused on the discovery, development and commercialization ... in its ongoing randomized HOPE-Duchenne clinical trial (Halt ... its 24-patient target. Capricor expects the trial to ... 2016, and to report top line data from ...
(Date:6/23/2016)...  Astellas today announced the establishment of Astellas Farma Colombia (AFC), a new affiliate with operations headquartered in ... . ... ... ... Astellas ...
(Date:6/23/2016)... June 23, 2016  Experian Health, the ... transforming the patient payment and care experience, ... new products and services that will enhance ... cycle offerings. These award-winning solutions will enable ... remain compliant in an ever-changing environment and ...
Breaking Medicine Technology: