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:12/5/2014)... VIEW, Calif. , Dec. 4, 2014 /PRNewswire/ ... safety has boosted investments in new testing and ... has also given rise to a range of ... by the requirements of Generation Y, which is ... technologies. As a result, product development strategies of ...
(Date:12/4/2014)... 3, 2014  Crossmatch™, a leading provider of ... DigitalPersona ® Pro Enterprise software and U.are.U ... throughout First Bank branch locations in ... and Virginia. First Bank, a progressive community ... North Carolina , selected the Crossmatch biometrics-based ...
(Date:12/3/2014)... , Dec. 2, 2014 As part of ... Inception Technologies is pleased to announce the release of ... customers to collect the workforce data that they need. ... have been left by existing readers. Many such devices ... connectivity and modern technology. Older models force users to ...
Breaking Biology News(10 mins):Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 2Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 3Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 4First Bank Partners with Crossmatch to Increase Log In Security 2First Bank Partners with Crossmatch to Increase Log In Security 3Inception Technologies to Release New Biometric Reader 2
... Rochelle, May 14, 2012 Disruptive Science and Technology ... Mary Ann Liebert, Inc., publishers, has officially released ... PhD, Highmark Distinguished Career Professor, Carnegie Mellon University, ... thorough syntheses and analyses focused on front-line concepts ...
... MO, May 14, 2012Arranging DNA fragments into a genome sequence ... assembling a puzzle except you don,t have the box and ... Sometimes clues from other publicly-available DNA sequences of related organisms ... usefulness depends on how closely related any two sequences are ...
... affect the intensity of its taste? It depends on the ... and colleagues from Brock University in Canada. Their work shows ... an effect on the intensity of sour, bitter and astringent ... published online in Springer,s Chemosensory Perception journal. ...
Cached Biology News:New journal on disruptive science and technology launched by Mary Ann Liebert Inc. publishers 2Researchers look to relatives for clues in quest to develop sources of bioenergy 2Researchers look to relatives for clues in quest to develop sources of bioenergy 3To get the full flavor, you need the right temperature 2
(Date:12/22/2014)... 22, 2014 Fertility Associates of Memphis ... Bank USA , a network of more than 20 ... partnership, patients have fast access to a national pool ... IVF . Fertility Associates of Memphis is the only ... treatment option. , Dr. William Kutteh , director ...
(Date:12/19/2014)... Charm Sciences is pleased to announce that ... Aflatoxin M1 in raw commingled milk is the first ... The peer reviewed report of the validation by Technology ... and Fisheries Research (ILVO-T&V) has been published by the ... most toxic aflatoxin and a known carcinogen, can be ...
(Date:12/19/2014)... 2014 Naurex Inc., a biopharmaceutical company leveraging ... of the central nervous system, today announced that ... will present at the 33 rd annual J.P. ... at 3:00 p.m. PST on Tuesday, January 13, 2015, ... Francisco, Calif. About Naurex ...
(Date:12/19/2014)... Calif. , Dec. 19, 2014 Bina Technologies, ... USA) announced today that they have been acquired by ... is a privately held company that provides a ... next generation sequencing (NGS) data for the academic and ... Roche Sequencing Unit, and will continue to focus on ...
Breaking Biology Technology:Fertility Associates of Memphis Announces Partnership with Donor Egg Bank USA 2Fertility Associates of Memphis Announces Partnership with Donor Egg Bank USA 3Charm Sciences Achieves Independent Validation of First 15 Minute Quantitative Screening Method for Aflatoxin M1 2Naurex to Present at 33rd Annual J.P. Morgan Healthcare Conference 2Bina Technologies is acquired by Roche. 2Bina Technologies is acquired by Roche. 3
... Z. Yang, Varian, Inc. , ... Chloramphenicol (CAP) is a potent, broad-spectrum antibiotic and ... of serious infections. Its use in meatproducing animals, food producing insects, ... Canada and the European Union. However, the illegal use of CAP ...
... Introduction , ... signaling processes leading to programmed cell death (apoptosis) is of utmost ... or Parkinsons and Alzheimers disease. Here, errors in the signaling cascade ... At the same time, damaged cells that do not enter the ...
... Tran T. Nham Varian Australia Pty Ltd Mulgrave, Victoria, ... , Because of the low detection ... it has been widely used to determine trace and ultratrace levels in ... the ability of the ultrasonic nebulizer to handle samples with significant amounts ...
Cached Biology Technology:Analysis Of Chloramphenicol by Negative Ion Electrospray LC/MS/MS 2Caspase-3 Activation - An Indicator of Apoptosis in Image-Based Assays 2Caspase-3 Activation - An Indicator of Apoptosis in Image-Based Assays 3Caspase-3 Activation - An Indicator of Apoptosis in Image-Based Assays 4Caspase-3 Activation - An Indicator of Apoptosis in Image-Based Assays 5Analysis of urine and seawater samples by ultrasonic nebulization with a high resolution ICP spectrometer 2Analysis of urine and seawater samples by ultrasonic nebulization with a high resolution ICP spectrometer 3Analysis of urine and seawater samples by ultrasonic nebulization with a high resolution ICP spectrometer 4
... is a two color staining method for ... to detect apoptotic cells by flow cytometry. ... required for measuring apoptosis in cells including: ... reagent performance; washing, reaction and rinsing buffers ...
... GT and PowerPac 3000 system, 220-240 V, is ... x 50 cm vertical slab gel format. The ... which is capable of separating nucleic acids with ... chamber (IPC) assembly (IPC and bonded inner glass ...
... PROTEAN Plus overlay agarose is ... to secure IPG strips in place ... tracking dye is incorporated to allow ... is composed of 0.75% agarose in ...
... PowerPac HV high-voltage power supply, with temperature probe, ... of 5,000 V, 500 mA, and 400 W. ... temperature between 0 and 90 degrees C during ... transfer. Power cord and instructions are provided. Dimensions ...
Biology Products: