Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Non-inherited mutations account for many heart defects, Yale researchers find

13.05.2013
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.

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.

Samir Zaidi and Murim Choi of Yale were co-lead authors of the paper. Researchers from Harvard University, Columbia University Medical Center, the Perelman School of Medicine at University of Pennsylvania, and Icahn School of Medicine at Mt. Sinai shared senior authorship.

Bill Hathaway | EurekAlert!
Further information:
http://www.yale.edu

More articles from Health and Medicine:

nachricht Finnish research group discovers a new immune system regulator
23.02.2018 | University of Turku

nachricht Minimising risks of transplants
22.02.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Attoseconds break into atomic interior

A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.

In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...

Im Focus: Good vibrations feel the force

A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.

By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...

Im Focus: Developing reliable quantum computers

International research team makes important step on the path to solving certification problems

Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...

Im Focus: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Basque researchers turn light upside down

23.02.2018 | Physics and Astronomy

Finnish research group discovers a new immune system regulator

23.02.2018 | Health and Medicine

Attoseconds break into atomic interior

23.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>