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Genetic mutation linked to congenital heart disease identified

Updated: Jul 30, 2013, 15:33 PM IST

Washington: A new study led by an Indian researcher has found that a mutation in a gene crucial to normal heart development plays a role in some types of congenital heart disease.

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.

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, 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, said.

"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?" Garg said.

"Right now, we don`t know enough about a lot of those genes, so this study provides another piece of the puzzle," he said.

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.

The findings are published in the journal Human Mutation.