Navigation Links
Non-inherited mutations account for many heart defects, Yale researchers find
Date:5/12/2013

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 a
'/>"/>

Contact: Bill Hathaway
william.hathaway@yale.edu
203-432-1322
Yale University
Source:Eurekalert

Page: 1 2

Related biology news :

1. BRG1 mutations confer resistance to hormones in lung cancer
2. Gene mutations cause massive brain asymmetry
3. Interacting mutations promote diversity
4. Mutations in autism susceptibility gene increase risk in boys
5. UMMS researchers isolate gene mutations in patients with inherited amyotrophic lateral sclerosis
6. New gene mutations linked to ALS and nerve cell growth dysfunction
7. Key mutations discovered for most common childhood brain cancer
8. BGI reports the latest finding on NMNAT1 mutations linked to Leber congenital amaurosis
9. Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood
10. New method provides fast, accurate, low cost analysis of BRCA gene mutations in breast cancer
11. Populations survive despite many deleterious mutations
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/30/2014)... of the environmental effects of moorland burning is published ... subject, with the aim of relieving tensions on both ... The EMBER (Effects of Moorland Burning on the Ecohydrology ... on moorland, which is practised predominantly to support red ... on peat hydrology, peat chemistry and physical properties, river ...
(Date:9/30/2014)... comprehensive assessment conducted by the Ocean Health Index ... 100 in overall health. In addition, for the ... the 15 ocean regions beyond national jurisdiction (high-seas ... healthy climate, safeguarding biodiversity and providing sustainable food ... the index, a partnership led by scientists from ...
(Date:9/30/2014)... The National Institutes of Health (NIH) awarded Lawrence ... develop an electrode array system that will enable ... through unprecedented resolution and scale. , LLNL,s grant-funded ... President Obama,s BRAIN (Brain Research through Advancing ... to revolutionize our understanding of the human mind ...
Breaking Biology News(10 mins):Grouse moor burning causes widespread environmental changes 2Rating the planet's oceans 2Rating the planet's oceans 3NIH taps lab to develop sophisticated electrode array system to monitor brain act 2NIH taps lab to develop sophisticated electrode array system to monitor brain act 3
... of modern-day birds took to the skies by gliding ... and legs, according to new research by a University ... journal Paleobiology, Department of Biological Sciences PhD student Nick ... taking off from the ground while running and shows ...
... role in mediating the outcome of competition between rival ... in the New World--or, on a much smaller ecological ... to competing bacteria. In a new study, researchers have ... with one another, and they have found that each ...
... directly comparing weight-loss outcomes in super-obese patients, researchers ... newer operation, the duodenal switch, produced substantially better ... gastric bypass. , In the October issue of ... the duodenal switch (DS) produced greater weight loss ...
Cached Biology News:Ancient birds flew on all-fours 2Different strategies underlie the ecology of microbial invasions 2For super-obese patients, duodenal switch beats gastric bypass 2For super-obese patients, duodenal switch beats gastric bypass 3
(Date:10/1/2014)... 1, 2014  Pressure BioSciences, Inc. (OTCQB: PBIO) ("PBI" ... and sale of high pressure-based sample preparation systems to ... been invited to present at the 2 nd ... , Poland.  The Conference will take place at the ... Richard T. Schumacher , President and CEO of PBI, ...
(Date:10/1/2014)... As the world takes its first steps into ... this century would mark the beginning of a new era ... The fact that the world is experiencing a rapid rise ... community. Almost half of these chronic conditions are due to ... medical care and intervention. While the world is experiencing a ...
(Date:10/1/2014)... September 30, 2014 New applications of ... that have evolved in nature over millennia are featured ... materials for applications in biophotonics in the October ... The journal is published by SPIE, the international society ... Several of the peer-reviewed articles are accessible via open ...
(Date:10/1/2014)... October 01, 2014 The U.S. Department ... Southern Illinois University Edwardsville as part of the Trade ... The funding is co-administered by the Department of Labor ... Secretary of Labor Thomas E. Perez and Secretary of ... in job-driven training grants to nearly 270 colleges across ...
Breaking Biology Technology:Pressure BioSciences, Inc. Invited to Present at the 2nd Global Life Sciences Conference in Warsaw, Poland 2Pressure BioSciences, Inc. Invited to Present at the 2nd Global Life Sciences Conference in Warsaw, Poland 3Pressure BioSciences, Inc. Invited to Present at the 2nd Global Life Sciences Conference in Warsaw, Poland 4Fighting Mortality and Morbidity of Chronic Health Disorders during Open Access Week 2Fighting Mortality and Morbidity of Chronic Health Disorders during Open Access Week 3Biomimetic and bioinspired materials enable new healthcare options, reports Journal of Biomedical Optics 2Biomimetic and bioinspired materials enable new healthcare options, reports Journal of Biomedical Optics 3U.S. Dept. of Labor Awards SIUE Nearly $10-Million Grant 2U.S. Dept. of Labor Awards SIUE Nearly $10-Million Grant 3U.S. Dept. of Labor Awards SIUE Nearly $10-Million Grant 4
... Pharmaceuticals, Inc.,(OTC Bulletin Board: ACCP) announced today that it ... Equity Conference to be held August,18-19, 2008 at the ... of Access is scheduled to speak on Monday, August ... and will give a corporate overview and,discuss the Company,s ...
... Anthera Pharmaceuticals,Inc., a privately held biopharmaceutical company ... a $19 Million,equity financing. New investors Caxton ... HBM BioCapital (Cayman Islands) led the financing, ... Advantage Venture Partners (the,General Partner of Caxton ...
... MS, EDMONTON, Aug. 12 /PRNewswire-FirstCall/ - BioMS ... treatment of multiple sclerosis (MS), today,announced financial and ... 2008. BioMS Medical, in partnership with Eli Lilly ... for the treatment of MS,undergoing pivotal trials in ...
Cached Biology Technology:Access Pharmaceuticals to Present at the Noble Financial Equity Conference 2Anthera Pharmaceuticals Completes $19 Million Financing; Appoints Christopher S. Henney as Chairman 2Anthera Pharmaceuticals Completes $19 Million Financing; Appoints Christopher S. Henney as Chairman 3BioMS Medical Announces Second Quarter 2008 Results 2BioMS Medical Announces Second Quarter 2008 Results 3BioMS Medical Announces Second Quarter 2008 Results 4BioMS Medical Announces Second Quarter 2008 Results 5
... Product Goat polyclonal to BRF2 ... terminal amino acids 406-419 of Human BRF2. ... yet tested in other species. Background Information ... of the RNA polymerase III transcription factor complex ...
Anti-Kusabira Orange Monoclonal Antibody Description: 100 g Research Focus: tag Storage: -20C Shipping Temperature: 4C...
alpha/beta-Tubulin Antibody Ship: Hot Store: -20 C...
Anti-Kusabira Orange Monoclonal Antibody Description: 100 g Research Focus: tag Storage: -20C Shipping Temperature: 4C...
Biology Products: