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

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.


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

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