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Non-inherited mutations account for many heart defects

Date:
May 12, 2013
Source:
Yale University
Summary:
New mutations that are absent in parents but appear in their offspring account for at least 10 percent of severe congenital heart disease, reveals a massive genomics study.

New mutations that are absent in parents but appear in their offspring account for at least 10% of severe congenital heart disease, reveals a massive genomics study led by researchers.
Credit: Image by Patrick Lynch, Yale University

New mutations that are absent in parents but appear in their offspring account for at least 10% of severe congenital heart disease, reveals a massive genomics study led, in part, by researchers at the Yale School of Medicine.

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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. In particular, the study found frequent mutations in genes that modify histones, proteins that package DNA in the nucleus and orchestrate the timing and activation of genes crucial to development of the fetus.

The results of the study, part of the Pediatric Cardiac Genomics Consortium funded by the NIH's National Heart, Lung, and Blood Institute (NHLBI), were published online May 12 in the journal Nature.

"These findings provide new insight into the causes of this common congenital disease," said Richard Lifton, Sterling Professor and chair of the Department of Genetics, investigator for the Howard Hughes Medical Institute, and a senior author of the paper. "Most interestingly, the set of genes mutated in congenital heart disease unexpectedly overlapped with genes and pathways mutated in autism. These findings suggest there may be common pathways that underlie a wide range of common congenital diseases."

"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.


Story Source:

The above story is based on materials provided by Yale University. Note: Materials may be edited for content and length.


Journal Reference:

  1. Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang, John D. Overton, Angela Romano-Adesman, Robert D. Bjornson, Roger E. Breitbart, Kerry K. Brown, Nicholas J. Carriero, Yee Him Cheung, John Deanfield, Steve DePalma, Khalid A. Fakhro, Joseph Glessner, Hakon Hakonarson, Michael J. Italia, Jonathan R. Kaltman, Juan Kaski, Richard Kim, Jennie K. Kline, Teresa Lee, Jeremy Leipzig, Alexander Lopez, Shrikant M. Mane, Laura E. Mitchell, Jane W. Newburger, Michael Parfenov, Itsik Pe’er, George Porter, Amy E. Roberts, Ravi Sachidanandam, Stephan J. Sanders, Howard S. Seiden, Mathew W. State, Sailakshmi Subramanian, Irina R. Tikhonova, Wei Wang, Dorothy Warburton, Peter S. White, Ismee A. Williams, Hongyu Zhao, Jonathan G. Seidman, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Christine E. Seidman, Richard P. Lifton. De novo mutations in histone-modifying genes in congenital heart disease. Nature, 2013; DOI: 10.1038/nature12141

Cite This Page:

Yale University. "Non-inherited mutations account for many heart defects." ScienceDaily. ScienceDaily, 12 May 2013. <www.sciencedaily.com/releases/2013/05/130512141210.htm>.
Yale University. (2013, May 12). Non-inherited mutations account for many heart defects. ScienceDaily. Retrieved November 24, 2014 from www.sciencedaily.com/releases/2013/05/130512141210.htm
Yale University. "Non-inherited mutations account for many heart defects." ScienceDaily. www.sciencedaily.com/releases/2013/05/130512141210.htm (accessed November 24, 2014).

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Spontaneous Mutations Play a Key Role in Congenital Heart Disease

May 12, 2013 Although genetic factors contribute to congenital heart disease, many children born with heart defects have healthy parents and siblings, suggesting that new mutations that arise spontaneously —- ... read more

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