Supercomputers solve riddle of congenital heart defects

August 13, 2012

About 25,000 Danes currently live with congenital heart defects. Both heredity and environment play a role for these malformations, but exactly how various risk factors influence the development of the heart during pregnancy has been a mystery until now.

With the aid of a , an international, interdisciplinary research team has analysed millions of data points. This has allowed the scientists to show that a huge number of different – for example in the form of genetic defects – influence the molecular biology of heart development.

"The discovery of a biological common denominator among many thousands of risk factors is an important step in health research, which in time can improve the prevention and diagnosis of ," explains Professor Lars Allan Larsen from the Department of Cellular and Molecular Medicine, University of Copenhagen.

Research results have recently been published in the well reputed scientific journal PNAS Proceedings of the National Academy of Sciences. The project was supported by the Danish Heart Association, Novo Nordisk Foundation and Danish National Research Foundation, among others.

Tailored treatment in future

Scientists have analysed several thousand genetic mutations and environmental risk factors associated with heart malformations in the hope of finding a pattern or common factor.

"Our investigations show that many different genetic factors together with environmental factors can influence the same biological system and cause disease. The results are also interesting in a broader perspective, because it is probable that similar interactions are also valid for diseases such as schizophrenia, autism, diabetes and cancer," says Kasper Lage, Director of Bioinformatics at Harvard University, USA.

Thus the results of the study give scientists an idea of how different combinations of variations in hereditary material can dispose the individual to disease: – This is interesting if we want to make treatment more efficient by tailoring an optimal approach for each individual patient, adds Professor Søren Brunak from the Novo Nordisk Foundation Center for Protein Research, University of Copenhagen.

Complex pattern creation provides new knowledge

When the international research team brought a systems biology perspective to bear on the huge data mass, they could see previously unknown and complex correlations between known risk factors and heart biology:

"Systems biology is a relatively new and holistic research field that uses bioinformatics and supercomputers to investigate highly complex biological problems. For example, we know of a number of genetic mutations that cause – but it is first now we have been able to show which biological systems in the heart are influenced by the mutations in question," explains Professor Lars Allan Larsen.

The research approach of systems biology can lead to surprising and pioneering conclusions, but the work is difficult and requires a great degree of interdisciplinary collaboration. In this case team members include genetic scientists, cardiac specialists and experts in bioinformatics from universities, hospitals and industry.

Explore further: New mouse model helps explain gene discovery in congenital heart disease

More information:

FACT BOX:

What is this all about?

In brief, systems biology involves making complete descriptions of biological systems such as a cell, a bacterium or an ecological system. The holistic approach comprises not only mapping all of the components (genes, proteins etc.) in a biological system, but uncovering the functions of the components as well – and their mutual relationships.

Systems biology arose as a research area thanks to the sophisticated methods and techniques developed in particular in the fields of gene technology and molecular biology, and because modern information technology allows statistical calculations to be made on massive amounts of data.

Related Stories

New mouse model helps explain gene discovery in congenital heart disease

June 26, 2012
Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...

'ROCK' off: Study establishes molecular link between genetic defect and heart malformation

February 6, 2012
UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called ...

Study identifies second gene associated with specific congenital heart defects

April 29, 2011
A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted ...

Heavy new arguments weigh in on the danger of obesity

May 1, 2012
A true obesity epidemic is gradually advancing throughout the developed world. A large new Danish-British study from the University of Copenhagen and University of Bristol documents for the first time a definite correlation ...

Scientists study serious immune malfunction

May 17, 2012
Defects in the gene that encodes the XIAP protein result in a serious immune malfunction. Scientists used biochemical analyses to map the protein's ability to activate vital components of the immune system. Their results ...

Recommended for you

How Gata4 helps mend a broken heart

August 15, 2017
During a heart attack, blood stops flowing into the heart; starved for oxygen, part of the heart muscle dies. The heart muscle does not regenerate; instead it replaces dead tissue with scars made of cells called fibroblasts ...

Injectable tissue patch could help repair damaged organs

August 14, 2017
A team of U of T Engineering researchers is mending broken hearts with an expanding tissue bandage a little smaller than a postage stamp.

'Fat but fit' are at increased risk of heart disease

August 14, 2017
Carrying extra weight could raise your risk of heart attack by more than a quarter, even if you are otherwise healthy.

Air pollution linked to cardiovascular disease; air purifiers may lessen impact

August 14, 2017
Exposure to high levels of air pollution increased stress hormone levels and negative metabolic changes in otherwise healthy, young adults in a recent study conducted in China. Air purifiers appeared to lessen the negative ...

Study hints at experimental therapy for heart fibrosis

August 14, 2017
Researchers report encouraging preclinical results as they pursue elusive therapeutic strategies to repair scarred and poorly functioning heart tissues after cardiac injury—describing an experimental molecular treatment ...

Scientists identify mutations in venous valve disease

August 14, 2017
A team of scientists has discovered that mutations in the genes FOXC2 and GJC2 are associated with defects in venous valves, flaps within veins that help maintain proper blood flow.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.