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

Clues to Congenital Heart Disease

Published: Wednesday, May 22, 2013
Last Updated: Wednesday, May 22, 2013
Bookmark and Share
Non-inherited mutations in hundreds of genes together account for about 1 in 10 cases of severe congenital heart defects.

The findings bring us closer to understanding the most common type of birth defect.
Congenital heart defects are problems with the heart’s structure that are present at birth. They range from simple defects with no symptoms to complex flaws with severe, life-threatening symptoms. These defects affect 8 out of every 1,000 newborns. More than a million adults nationwide are living with congenital heart disease.

An international, multicenter collaborative research team performed genomic analyses to gain insights into the causes of congenital heart defects. The effort was supported largely by NIH’s National Heart, Lung and Blood Institute (NHLBI). The team used state-of-the-art sequencing and genome-mapping techniques to focus on the exome—the complete set of protein-coding regions in the genome. While the exome represents only about 1.5% of the genome, past studies have found that it harbors most disease-causing mutations.

The researchers analyzed 362 parent-offspring trios, each of which included a child with congenital heart disease and his or her healthy parents. A group of 264 healthy parent-offspring trios served as controls for comparison. The results appeared online in Nature on May 12, 2013.

The scientists found that about 10% of the participant cases were associated with spontaneous (or de novo) mutations, which arise during fetal development. Based on their results, the investigators were able to estimate that there may be several hundred genes in which de novo mutations could contribute to congenital heart disease.

Many of the genes with spontaneous mutations are involved in the biological pathway for a type of epigenetic modification called histone 3 lysine 4 (H3K4) methylation. Epigenetic modifications are changes to DNA that affect gene expression without altering the genetic sequence itself. Targeted sequencing of these genes in larger groups of patients may reveal more about the role of these mutations.

“These findings provide new insight into the causes of this common congenital disease,” says Dr. Richard Lifton of the Yale School of Medicine, 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.”

While this study identified many genes involved in congenital heart disease, the findings still don’t resolve the causes of most cases. Other genes and molecular pathways that cause congenital heart disease remain to be discovered.


Further Information
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 2,500+ scientific posters on ePosters
  • More than 3,800+ 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

Drug Combination May be Highly Effective in Recurrent Ovarian Cancer
The drugs were tested in a phase I combination study followed by a randomized phase 2 trial.
Monday, June 02, 2014
TCGA Bladder Cancer Study Reveals Potential Drug Targets, Similarities to Several Cancers
Investigators have identified new potential therapeutic targets for a major form of bladder cancer, including important genes and pathways that are disrupted in the disease.
Thursday, January 30, 2014
Gene Variants Found Associated With Human Immune System, Autoimmune Disease
Numerous studies have reported that certain diseases are inherited. But genetics also plays a role in immune response, affecting our ability to stave off disease.
Friday, September 27, 2013
NIH Program Explores the Use of Genomic Sequencing in Newborn Healthcare
Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides?
Wednesday, September 04, 2013
Gene Therapy for Salivary Gland Shows Promise
An experimental trial showed that gene therapy can be performed safely in the human salivary gland.
Tuesday, December 04, 2012
Gene Therapy Restores Sense of Smell in Mice
Mice that were unable to smell from birth gained the ability to smell when researchers used gene therapy to regrow structures called cilia on cells that detect odor.
Tuesday, October 02, 2012
Researchers Discover Key Mutation in Acute Myeloid Leukemia
Researchers have discovered mutations in a particular gene that affects the treatment prognosis for some patients with acute myeloid leukemia (AML), an aggressive blood cancer that kills 9,000 Americans annually.
Monday, November 15, 2010
NIH Launches Genotype-Tissue Expression Project
Project to chart influence of DNA changes on gene function in human tissues and organs.
Wednesday, October 13, 2010
Gene Variations that Alter Key Enzyme Linked to Prostate Cancer
Ties found previously for susceptibility to testicular cancer, adrenal gland tumors.
Monday, October 04, 2010
NCBI Launches the Database of Genomic Structural Variations
A new tool to aid in understanding the genetics of health and disease.
Friday, October 01, 2010
NIH Expands Network Focused on How Genes Affect Drug Responses
NIH plans to spend $161.3 million over the next five years to expand the Pharmacogenomics Research Network.
Thursday, September 09, 2010
Gene Scan Finds Link Across Array of Childhood Brain Disorders
Researchers found gene mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.
Friday, August 27, 2010
New Compound Improves Obesity-Related Health Complications in NIH-Led Study
A report of the study, which was conducted with obese mice, appears online in the Journal of Clinical Investigation.
Tuesday, July 27, 2010
Gene Variant that may Prevent African Sleeping Sickness also Leads to Increased Chance of Kidney Disease
NIH researchers found that gene variants in APOL1, more common in African Americans, come with both health risk and reward.
Monday, July 19, 2010
NIH Expands National Network for Transforming Clinical and Translational Research
Nine Institutions to receive $255 million over five years to help scientists bridge laboratory discoveries to patient treatments.
Thursday, July 15, 2010
Scientific News
Poor Survival Rates in Leukemia Linked to Persistent Genetic Mutations
For patients with an often-deadly form of leukemia, new research suggests that lingering cancer-related mutations – detected after initial treatment with chemotherapy – are associated with an increased risk of relapse and poor survival.
Searching Big Data Faster
Theoretical analysis could expand applications of accelerated searching in biology, other fields.
Growing Hepatitis C in the Lab
Recent discovery allows study of naturally occurring forms of hepatitis C virus (HCV) in the lab.
Inciting an Immune Attack on Cancer Cells
A new minimally invasive vaccine that combines cancer cells and immune-enhancing factors could be used clinically to launch a destructive attack on tumors.
Reprogramming Cancer Cells
Researchers on Mayo Clinic’s Florida campus have discovered a way to potentially reprogram cancer cells back to normalcy.
Genetic Overlapping in Multiple Autoimmune Diseases May Suggest Common Therapies
CHOP genomics expert leads analysis of genetic architecture, with eye on repurposing existing drugs.
Surprising Mechanism Behind Antibiotic-Resistant Bacteria Uncovered
Now, scientists at TSRI have discovered that the important human pathogen Staphylococcus aureus, develops resistance to this drug by “switching on” a previously uncharacterized set of genes.
How DNA ‘Proofreader’ Proteins Pick and Edit Their Reading Material
Researchers from North Carolina State University and the University of North Carolina at Chapel Hill have discovered how two important proofreader proteins know where to look for errors during DNA replication and how they work together to signal the body’s repair mechanism.
Fat in the Family?
Study could lead to therapeutics that boost metabolism.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
Skyscraper Banner

Skyscraper Banner
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
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!