Navigation Links
Researchers take important step in unlocking what causes congenital heart disease
Date:5/12/2013

Findings from the first large-scale sequencing analysis of congenital heart disease bring us closer to understanding this most common type of birth defect. The analysis found that spontaneous, or de novo, mutations affect a specific biological pathway that is critical to aspects of human development, including the brain and heart. Congenital heart disease can cause infants to be born with structural heart problems, which can be serious or even life-threatening.

The findings, which were published online today in the journal Nature, will inform future research into the causes of congenital heart disease.

This research was conducted through the National Heart, Lung, and Blood Institute- (NHLBI) supported Pediatric Cardiac Genomics Consortium, an international, multi-center collaborative research effort. The NHLBI is part of the National Institutes of Health.

The researchers looked at 362 parent-offspring trios, each of which included a child with congenital heart disease and his or her healthy parents, as well as 264 healthy parent-offspring trios, which served as the control group. The team conducted an analysis using state-of-the-art sequencing and genome mapping techniques and found that the children with congenital heart disease had a greatly increased rate of spontaneous mutations among genes that are highly expressed, or active, in the developing heart. Specifically, the analysis found that about 10 percent of the participant cases were associated with spontaneous mutations that arise during fetal development. Many of these genes were involved in a specific pathway that controls and regulates gene expression, which provides some insight into how the defects arise.

The Pediatric Cardiac Genomics Consortium provided resources to recruit thousands of patients in a small amount of time and used advanced sequencing techniques to identify genes that are implicated in congenital heart disease.

Future research aims to better understand how congenital heart disease develops in order to improve treatment and perhaps eventually prevent congenital heart disease in the early stages of heart formation.


'/>"/>

Contact: NHLBI Communications Office
nhlbi_news@nhlbi.nih.gov
301-496-4236
NIH/National Heart, Lung and Blood Institute
Source:Eurekalert

Related medicine news :

1. UCLA stem cell researchers move toward treatment for rare genetic nerve disease
2. Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
3. Duke researchers describe how breast cancer cells acquire drug resistance
4. CWRU School of Medicine researchers discover new target for personalized cancer therapy
5. U of M researchers discover link between heart, blood, and skeletal muscle
6. Researchers determine where best to place defibrillators
7. Researchers plot locations where AEDs could save more lives
8. Gene Mutation Linked to Migraines, Researchers Say
9. Discovery of New Cause of Congenital Hydrocephalus Opens the Door to Collaborative Research Study, Hydrocephalus Association Commends Researchers
10. Northwestern Medicine researchers work to improve heart attack response time
11. NYU and NYU Langone researchers devise method for enhancing CEST MRI
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/17/2017)... ... January 17, 2017 , ... Peoples Health is ... Health network on Dec. 1, 2016. Peoples Health, a Metairie-based Medicare Advantage company, ... an exciting addition to our provider network, and the addition will benefit our ...
(Date:1/17/2017)... ... January 17, 2017 , ... Wettstein Agencies, a Denver ... business professionals throughout central Colorado, is joining local nonprofit Aurora Warms The Night ... The Night organization is committed to breaking the cycle of homelessness and poverty ...
(Date:1/17/2017)... Tyler, TX (PRWEB) , ... January 17, 2017 ... ... serving Texas families from two offices in Tyler, has announced the latest beneficiary ... Red Ribbon Wish Network, a nonprofit organization dedicated to fulfilling the dreams of ...
(Date:1/16/2017)... ... January 17, 2017 , ... ... an internationally recognized leader in the fast-casual category, announces a hearty and wholesome ... Good Egg Breakfast Sandwich, Turkey Mash-Up Sandwich, Cranberry Crunch & Honey Parfait, Slow ...
(Date:1/16/2017)... ... , ... With the Grand Opening Event planned for February 3, 2017, the ... and the general public. Built in five months by Centerpoint, the 60,000 square foot ... or pickleball courts. The space is also suitable for indoor soccer and football training. ...
Breaking Medicine News(10 mins):
(Date:1/17/2017)... Research and Markets has announced the addition of the ... their offering. ... The global fluoropolymer market in the healthcare industry to grow at ... Global Fluoropolymer Market in the Healthcare Industry 2016-2020, has been prepared ... The report covers the market landscape and its growth prospects over ...
(Date:1/17/2017)... , Jan. 17, 2017  In a letter to ... Jo Ann Jenkins outlines AARP,s priorities for Americans ... Security, ensuring access to affordable health care coverage, and ... the letter Jenkins writes to President-elect Trump that "Our ... are counting on you to protect their Medicare and ...
(Date:1/17/2017)... , Jan. 17, 2017  In a preview of ... Annual Congress, Astute Medical, Inc., developer of the NephroCheck ... the test, which identifies hospital patients at risk of developing ... take place this month at the Hawaii ... January 21 through January 25. AKI is one ...
Breaking Medicine Technology: