The analysis of all the genes of more than 1800 individuals found hundreds of mutations that can cause congenital heart disease, the most common form of birth defect that afflicts nearly 1% of all newborns.
"This is an important piece of the puzzle that gives us a clearer picture of the causes of congenital heart disease," said Gary H. Gibbons, M.D., director of the NHLBI. "What this international, multi-center collaborative research effort was able to accomplish, in a small amount of time, is truly remarkable. The state-of-the-art sequencing techniques that were used are allowing us to push the envelope and envision a day when we may be able to better treat and eventually prevent congenital heart disease in the early stages of heart formation."
The mutations can occur at the same site, and both increase and decrease the modification histone proteins, said Martina Brueckner, professor of pediatrics and genetics at Yale and another senior author of the study. The results suggest a very sensitive developmental system that might also be influenced by environmental factors in development."These findings point to fundamental mechanisms that play a role in a wide range of congenital diseases," Lifton said.
Bill Hathaway | EurekAlert!
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