Corporate Banner
Satellite Banner
Genomics
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Non-Inherited Mutations Account for Many Heart Defects

Published: Monday, May 13, 2013
Last Updated: Monday, May 13, 2013
Bookmark and Share
Congenital heart disease affects almost 1% of all newborns.

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 at the Yale School of Medicine.

The analysis of all the genes of more than 1800 individuals found hundreds of mutations in 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 National Heart Lung and Blood Institute, were published online May 12 in the journal Nature.

 “These findings provide new insight into the causes of this common congenital disease,” said Dr. 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.”

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.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,300+ scientific posters on ePosters
  • More than 4,800+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Effects Of Maternal Smoking Continue Long After Birth
Yale study shows that maternal smoking is linked to behavioural changes.
Wednesday, June 01, 2016
Gene Testing Now Allows Precision Medicine for Thoracic Aneurysms
Researchers at the Aortic Institute at Yale have tested the genomes of more than 100 patients with thoracic aortic aneurysms, a potentially lethal condition, and provided genetically personalized care.
Monday, July 20, 2015
After a Sip of Milkshake, Genes and Brain Activity Predict Weight Gain
The new study published in The Journal Neuroscience.
Thursday, May 21, 2015
Gene Editing Corrects Mutation In Cystic Fibrosis
Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder.
Monday, April 27, 2015
Single-Cell, 42-plexed Protein Analysis Achieved with a New Microchip Technology
A novel microdevice capable of detecting 42 unique immune effector proteins has been developed.
Tuesday, February 17, 2015
New Class of Synthetic Molecules Mimics Antibodies
A Yale University lab has crafted the first synthetic molecules that have both the targeting and response functions of antibodies.
Wednesday, December 24, 2014
Immune Cells get Cancer-Fighting Boost From Nanomaterials
Yale researchers used bundled carbon nanotubes to incubate cytotoxic T cells.
Monday, August 18, 2014
Gene that Causes Obesity-Related Metabolic Syndrome Identified
Yale-led research has identified a genetic mutation responsible for the cluster of cardiovascular risk factors that comprise the obesity-related “metabolic syndrome.”
Friday, May 16, 2014
Tsetse Fly Genome Sequenced
Research opens the door to scientific breakthroughs that could reduce or end African sleeping sickness in sub-Saharan Africa.
Friday, April 25, 2014
Deleting Single Gene Reduces Fat in Mice
By deleting a single gene, researchers at Yale University were able to dramatically reduce fat mass in mice while expanding their lifespan by 20%.
Tuesday, March 25, 2014
Genetic Mutation Causes Lupus in Mice
Discovery could open the way for development of therapies that target the mutation.
Tuesday, January 07, 2014
Yale’s Lifton Receives $3 Million Science Prize
Richard Lifton has received a $3 million Breakthrough Prize in Life Sciences, created by top Silicon Valley entrepreneurs.
Monday, December 16, 2013
Follow the Genes: Yale Team Finds Clues to Origin of Autism
A team of researchers has pinpointed which cell types and regions of the developing human brain are affected by gene mutations linked to autism.
Wednesday, November 27, 2013
Yale and Harvard Researchers Rewrite an Entire Genome
Scientists recoded the entire genome of an organism and improved a bacterium’s ability to resist viruses.
Friday, October 18, 2013
Awakening Genes that Suppress Tumors
When genes that normally suppress tumor growth are themselves suppressed, cancer cells can grow and proliferate uncontrollably.
Tuesday, October 15, 2013
Scientific News
Liquid Biopsies: Miracle Diagnostic or Next New Fad?
Thanks to the development of highly specific gene-amplification and sequencing technologies liquid biopsies access more biomarkers relevant to more cancers than ever before.
Cancer Gene-Drug Combinations Ripe for Precision Medicine
The study aims to expand the number of cancer gene mutations that can be paired with a precision therapy.
Targeting BRAF Mutations in Thyroid Cancer
Treating metastatic thyroid cancer patients harboring a BRAF mutation with vemurafenib showed anti-tumor activity in a third of patients.
Colon Cancer Blocked in Mice
Case Western Reserve University Researchers block common type of colon cancer tumour in mice, laying groundwork for human clinical trial.
Cancer Related Immune Response Genes Uncovered
Researchers at the SBP have identified over 100 new genetic regions that affect the immune response to cancer.
New Therapeutic Targets For Small Cell Lung Cancer Identified
Researchers at UTSW Medical Center have identified a protein termed ASCL1 that is essential to the development of small cell lung cancer.
Deciphering Inactive X Chromosomes
Untangling the Barr body of inactive X chromosomes valuable for understanding chromosome structure and gene expression.
Micro Disease-Detecting Sensor Created
Researchers at McMaster University have created a microscopic disease-detecting sensor that can turn on to detect trace amounts of substances.
Liquid Biopsies Treating Ovarian Cancer
Researchers have discovered a promising monitor and treat recurrence of ovarian cancer. Detecting cancer long before tumours reappear.
Uncovering a New Principle in Chemotherapy Resistance in Breast Cancer
The NIH study has revealed an entirely unexpected process for acquiring drug resistance that bypasses the need to re-establish DNA damage repair in breast cancers that have mutant BRCA1 or BRCA2 genes.
Skyscraper Banner

SELECTBIO Market Reports
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,300+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!