Featured Research

from universities, journals, and other organizations

New gene discovery for babies born with hole in the heart

Date:
May 27, 2013
Source:
Manchester University
Summary:
A new gene associated with a form of congenital heart disease in newborn babies – known as “a hole in the heart” has been discovered by researchers.

New gene discovery for babies born with hole in the heart A new gene associated with a form of congenital heart disease in newborn babies -- known as "a hole in the heart" has been discovered by researchers. British Heart Foundation (BHF) Professor Bernard Keavney, from The University of Manchester and Newcastle University, led the research which saw investigators from Newcastle, Nottingham, Oxford and Leicester universities in the UK, together with colleagues in Europe, Australia and Canada pool resources.

The discovery, published in Nature Genetics today, will help lead to better understanding of why some patients are born with the disorder. Congenital heart disease (CHD) is the most common form of congenital malformation, occurring in seven in 1000 babies born and is one of the major causes of childhood death and illness. Most patients born with CHD now survive to adulthood, so identifying the responsible genes is important as experts attempt to provide individual-specific genetic counselling for these people.

In about 20% of cases, a predisposing cause can be identified, for example Down's Syndrome, but in the remainder of patients, although genes are recognised to be important, scientists do not know the identity of these genes. The study, funded by the BHF and the Wellcome Trust, looked at over 2,000 CHD patients and measured over 500,000 genetic markers which vary in the general population. The genetic markers in the patients were compared to the markers of over 5,600 people in good health who acted as a control group.

The researchers found a relationship between a particular region of the human genome and risk of atrial septal defect (ASD) -- a "hole" between the heart's blood-collecting chambers, which they went on to confirm in additional cases of atrial septal defect and healthy controls. BHF Professor Keavney, Director of the Institute of Cardiovascular Sciences at The University of Manchester, said identifying a gene associated with one type of CHD was an important step forward. "We found that a common genetic variation near a gene called Msx1 was strongly associated with the risk of a particular type of CHD called atrial septal defect or hole in the heart," he said. "ASD is one of the most common forms of congenital heart disease, and it carries a risk of heart failure and stroke. We estimated that around 10% of ASDs may be due to the gene we found. We can now work to find out how Msx1 and/or its neighbour genes affect the risk of ASD."

Researchers looked at all the major types of congenial heart disease (CHD), but they did not find a genetic marker common in all types of CHD. Professor Keavney added: "Our work also suggests that if we conduct larger studies we will be able to find genes that cause other types of CHD. Although we are not there yet, further studies may enable us to give better genetic counselling to high risk families. Also, when we identify genes important in the development of the heart because they have gone wrong, it helps us understand normal development better. Such an understanding is fundamental to any attempt to treat people with heart disease at any age -- for example those suffering from heart failure -- using regenerative medicine." Dr Shannon Amoils, Senior Research Advisor at the BHF, which part-funded the study, said: "We've made great strides in treating congenital heart disease; most babies born with a heart defect have a much brighter future now than they would have had in the 1960s when the BHF was founded. But we still need to fund much more research like this, to better understand the fundamental causes of congenital heart defects. "These important results show how large collaborative studies are incredibly useful for uncovering the influence of our genes on congenital heart disease.

As researchers continue to identify other associated genes, we will be able to better predict the chances of children being born with heart problems, and will also learn more about the underlying processes that can go wrong in the developing heart."


Story Source:

The above story is based on materials provided by Manchester University. Note: Materials may be edited for content and length.


Journal Reference:

  1. Heather J Cordell, Jamie Bentham, Ana Topf, Diana Zelenika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian Blue, Javier Granados-Riveron, Kerry Setchfield, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Ruairidh Martin, Thahira J Rahman, Darroch Hall, Klaartje van Engelen, Antoon F M Moorman, Aelko H Zwinderman, Phil Barnett, Tamara T Koopmann, Michiel E Adriaens, Andras Varro, Alfred L George, Christobal dos Remedios, Nanette H Bishopric, Connie R Bezzina, John O'Sullivan, Marc Gewillig, Frances A Bu'Lock, David Winlaw, Shoumo Bhattacharya, Koen Devriendt, J David Brook, Barbara J M Mulder, Seema Mital, Alex V Postma, G Mark Lathrop, Martin Farrall, Judith A Goodship, Bernard D Keavney. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nature Genetics, 2013; DOI: 10.1038/ng.2637

Cite This Page:

Manchester University. "New gene discovery for babies born with hole in the heart." ScienceDaily. ScienceDaily, 27 May 2013. <www.sciencedaily.com/releases/2013/05/130527100532.htm>.
Manchester University. (2013, May 27). New gene discovery for babies born with hole in the heart. ScienceDaily. Retrieved July 31, 2014 from www.sciencedaily.com/releases/2013/05/130527100532.htm
Manchester University. "New gene discovery for babies born with hole in the heart." ScienceDaily. www.sciencedaily.com/releases/2013/05/130527100532.htm (accessed July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Dangerous Bacteria Kills One in Florida

Dangerous Bacteria Kills One in Florida

AP (July 31, 2014) Sarasota County, Florida health officials have issued a warning against eating raw oysters and exposing open wounds to coastal and inland waters after a dangerous bacteria killed one person and made another sick. (July 31) Video provided by AP
Powered by NewsLook.com
Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Peace Corps Pulls Workers From W. Africa Over Ebola Fears

Peace Corps Pulls Workers From W. Africa Over Ebola Fears

Newsy (July 30, 2014) The Peace Corps is one of several U.S.-based organizations to pull workers out of West Africa because of the Ebola outbreak. Video provided by Newsy
Powered by NewsLook.com
Weather Kills 2K A Year, But Storms Aren't The Main Offender

Weather Kills 2K A Year, But Storms Aren't The Main Offender

Newsy (July 30, 2014) Health officials say 2,000 deaths occur each year in the U.S. due to weather, but it's excessive heat and cold that claim the most lives. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

    Environment News

    Technology News



      Save/Print:
      Share:

      Free Subscriptions


      Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

      Get Social & Mobile


      Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

      Have Feedback?


      Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
      Mobile: iPhone Android Web
      Follow: Facebook Twitter Google+
      Subscribe: RSS Feeds Email Newsletters
      Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins