Navigation Links
Researchers identify genetic mutation linked to congenital heart disease
Date:7/29/2013

A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart diseasethe most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide Children's Hospital, could help narrow the search for genes that contribute to this defect, which affects as many as 40,000 newborns a year. The findings were published in a recent issue of in Human Mutation.

Several hundred genes have been implicated in the formation of the heart, and a mutation in any of them could potentially contribute to a cardiac defect. Identifying which of these genes is involved in human congenital heart disease has been a challenge for scientists in the field, says Vidu Garg, MD, senior author of the new study, principal investigator in the Center for Cardiovascular and Pulmonary Research and director of Translational Research in The Heart Center at Nationwide Children's.

"We have to ask ourselves, what subset of the more than 20,000 genes that make up the human genome are contributing to congenital heart disease?" he says. "Right now, we don't know enough about a lot of those genes, so this study provides another piece of the puzzle."

That piece is FOXP1, a member of a large gene family that helps regulate tissues throughout the body, including in the heart, lungs and brain. A few studies on FOXP1 had described its function and role in cardiac development in animal models, but it wasn't until a former colleague called with an interesting case that Dr. Garg decided the gene was worth a closer look.

While analyzing a DNA sample from an 8-month-old infant who died from complications of complex congenital heart disease, Linda Baker, MD, at the University of Texas Southwestern Medical Center, had found a rare genetic abnormalitya small chromosomal deletionin the patient's FOXP1 gene.

A search of DNA samples from patients with congenital heart disease in a repository at Nationwide Children'sone of the largest in the nationrevealed two additional patients with a similar complex heart defect who had a rare mutation in the same gene. On further analysis, Dr. Garg's team found that this mutation affected the gene's ability to express a transcription factor called Nkx2.5, which has been implicated in congenital heart disease.

"If you have three unrelated people with an abnormality in the same gene, and they also have an extremely rare type of congenital heart disease, there's a high likelihood that the gene is contributing to the condition," says Dr. Garg, who also is an associate professor of pediatrics at The Ohio State University College of Medicine. "Understanding how either deletion or loss of FOXP1 affects normal heart development could help contribute to our understanding of congenital heart disease."

The next step in the research is to see if they can find the FOXP1 mutation in patients with different types of congenital heart disease. From there, they will begin to look at how the gene interacts with others involved in the formation of a normal heart. Given that congenital heart disease is probably the result of mutations in many genes, Dr. Garg says, it's quite possible that by studying this gene and its potential partners, we can uncover other potential candidate genes for heart malformations.


'/>"/>

Contact: Gina Bericchia
Gina.Bericchia@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

Related medicine news :

1. NIH awards $20 million over 5 years to train next generation of global health researchers
2. Researchers develop a new cell and animal model of inflammatory breast cancer
3. Researchers uncover a viable way for colorectal cancer patients to overcome drug resistance
4. Researchers Find Gene Mutations That May Be a Key to Autism
5. Researchers find evidence of banned antibiotics in poultry products
6. NJ stroke researchers report advances in spatial neglect research at AAN Conference
7. Autism by the numbers: Yale researchers examine impact of new diagnostic criteria
8. Researchers Map Brain Regions Linked to Intelligence
9. Researchers ID Genes That May Determine Mental Illness
10. Researchers Develop Blood Test for Depression
11. University of Cincinnati researchers win $3.7M grant from US Department of Defense
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/26/2016)... ... , ... On June 10-11, 2016, A Forever Recovery, a holistic treatment center ... Breakfast Table in Battle Creek, MI, where the rehabilitation facility is located. This annual ... the world’s leading providers of cereal and other breakfast foods. Its residents often refer ...
(Date:6/25/2016)... ... 25, 2016 , ... Experts from the American Institutes for ... Meeting June 26-28, 2016, at the Hynes Convention Center in Boston. , AIR ... care planning, healthcare costs and patient and family engagement. , AIR researchers will ...
(Date:6/25/2016)... ... June 25, 2016 , ... As a lifelong Southern ... Laude and his M.D from the David Geffen School of Medicine at UCLA. He ... Los Angeles to complete his fellowship in hematology/oncology at the UCLA-Olive View-Cedars Sinai program ...
(Date:6/24/2016)... , ... June 24, 2016 , ... Those who have ... these feelings, many turn to unhealthy avenues, such as drug or alcohol abuse, as ... Michigan, has released tools for healthy coping following a traumatic event. , Trauma sufferers ...
(Date:6/24/2016)... San Francisco, CA (PRWEB) , ... June 24, ... ... at CitiDent, is now offering micro-osteoperforation for accelerated orthodontic treatment. Dr. Cheng has ... , self-ligating Damon brackets , AcceleDent, and accelerated osteogenic orthodontics. , ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... and SAN CLEMENTE, Calif. , June 24, ... -based mobile pulmonary function testing company, is now able to perform ... developed by ndd Medical Technologies , Inc. ... in hospital-based labs.  Thanks to ndd,s EasyOne PRO ® , ARL ... can get any needed testing done in the comfort of her ...
(Date:6/24/2016)... Belgium , June 24, 2016 ... the appointment of Dr. Edward Futcher ... Non-Executive Director, effective June 23, 2016.Dr. Futcher was ... Nominations and Governance Committees.  As a non-executive member ... independent expertise and strategic counsel to VolitionRx in ...
(Date:6/23/2016)... 2016 Any dentist who has made an implant ... process. Many of them do not even offer this as ... high laboratory costs involved. And those who ARE able to ... a high cost that the majority of today,s patients would ... Parsa Zadeh , founder of Dental Evolutions Inc. and inventor ...
Breaking Medicine Technology: