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Mount Sinai Researchers Identify Gene Mutations in Congenital Heart Disease
Date:5/12/2013

New York, NY (PRWEB) May 12, 2013

Mutations in eight genes have been linked to severe forms of congenital heart disease (CHD), according to a study involving investigators at the Icahn School of Medicine at Mount Sinai.
The study used an advanced technique known as high-throughput sequencing that enables scientists to obtain the sequence of all 22,000 human genes and the entire human genome at one time. Results from the study are published online today in the journal Nature.

The research was conducted through the National Heart, Lung, and Blood Institute (NHLBI)-supported Pediatric Cardiac Genomics Consortium, an international, multi-center collaborative effort. The NHLBI is part of the National Institutes of Health (NIH).

“The eight genes that we identified are important in chromatin remodeling,” said a study coinvestigator, Bruce D. Gelb, MD, Director of The Mindich Child Health and Development Institute (MCHDI) at the Icahn School of Medicine at Mount Sinai.

Chromatin remodeling controls which genes work in which cells. For example, chromatin remodeling makes sure that only genes that control the heart are used in the heart, and genes that are used in the brain are turned on and off in the brain. When chromatin remodeling genes are altered, the on/off status of many genes is altered.

“Together, all of the gene mutations we found account for about 10 percent of the severe congenital heart disease,” said Dr. Gelb. “We may eventually be able to offer better early interventions that slow the natural history of congenital heart disease.”

Congenital heart disease affects approximately 8 in 1,000 newborns. It encompasses a wide variety of defects. Some forms of CHD c
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