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:7/24/2017)... Huntingdon Valley, PA (PRWEB) , ... July 24, 2017 , ... ... wind and rain storms wreak havoc across communities and often result in massive tree ... Top 3 actions homeowners can take now including tree trimming, tree cabling and hazardous ...
(Date:7/24/2017)... Falls Church, VA (PRWEB) , ... July 24, ... ... is figuring out how to change manufacturers future. , The agency is hammering ... Century Cures Act, one of the farthest-ranging laws ever to affect FDA-regulated firms. ...
(Date:7/24/2017)... (PRWEB) , ... July 24, 2017 , ... ... new office at 2307 Bellmore Avenue, Bellmore, New York, (516) 784-5858. The office ... Fabrikant, M.D. and physician assistants Lori Friedman and Fruma Leah Wiederman. , ...
(Date:7/24/2017)... ... ... “Nana Nana Boo Boo”: a delightful tale of a young girl who learns ... is the creation of published author Michael Rush, a Deputy Sheriff, former world champion ... new book presents the importance of manners in a way easily understood by children ...
(Date:7/24/2017)... ... July 24, 2017 , ... “Journey to the Light: ... novel that details a young woman’s path to finding herself. “Journey to the ... of published author, Jamie Grayson, an experienced writer of newsletters, manuals, and articles, who ...
Breaking Medicine News(10 mins):
(Date:7/10/2017)... , July 10, 2017  US medical equipment and ... 2021, according to Medical Equipment & Supplies: ... Freedonia Focus Reports. Continued increases in demand for medical ... of the population and supported by gains in disposable ... and supplies. New product introductions will also drive sales ...
(Date:7/6/2017)... division of Diplomat Specialty Infusion Group, is celebrating a decade of empowering ... celebrate its anniversary, ThriveRx recently launched a redesigned website at thriverx.diplomat.is ... to create the best user experience for consumers and health care professionals. ... Diplomat Pharmacy ... "We,ve made several great strides throughout the past 10 years," ...
(Date:7/1/2017)... June 30, 2017 Zimmer Biomet Holdings, Inc. (NYSE ... earnings conference call will be broadcast live over the Internet ... A news release detailing the quarterly results will be made ... conference call. The live audio webcast can be ... . It will be archived for replay following the conference ...
Breaking Medicine Technology: