Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Study of transplanted hearts reveals risk gene for cardiovascular disease

14.09.2017

In the largest transcriptome study to date, an international research team analysed the RNA of transplanted hearts and discovered a number of new risk factors for dilated cardiomyopathy and other heart conditions which could thus be recognised more easily in future.

We know of many genes with variants that make us particularly prone to cardiovascular disease. But there are gaps in our knowledge. It is not just the genes themselves but also the way they are expressed that influences the risk of disease.


While a normal heart pumps a certain amount of blood (left), the dilated heart has much lower pumping capacity (right)

Illustration: Dr. Eleonora Adami, MDC

In some cases, DNA regions that control how genetic information is copied onto RNA molecules are changed. The amount of RNA and whether this temporary information carrier is subsequently modified influence the development of disease.

To investigate these processes at RNA-level, however, there is a serious lack of research material. “It is extremely hard to get human heart tissue for genetic studies,” says Professor Norbert Hübner, one of the leading researchers involved in the study. “That’s why we still don’t know all the variants of risk genes by a long chalk.”

Together with a team from the Helmholtz Zentrum München and researchers from the Netherlands and Singapore, the group leader at the Max Delbrück Center for Molecular Medicine (MDC), the Charité – Universitätsmedizin Berlin and the Deutsches Zentrum für Herz-Kreislauf-Erkrankungen (DZHK) has just published a paper in the journal Genome Biology. It is the largest genetic study yet undertaken comparing the entire transcriptome of heart tissue in healthy and diseased individuals.

Heart transplants facilitate large genetic study

The research team was keen to discover which genes increase the risk of dilated cardiomyopathy (DCM), an inherited myocardial insufficiency that can lead to heart failure and sudden death.

During heart transplants, the scientists collected biopsies from the left ventricle of 97 patients with DCM and 108 healthy donors. They analysed the transcriptome and managed to identify 228 genes which are expressed differently in DCM patients and healthy subjects.

Certain RNA molecules or RNA modifications also occured with varying frequency. The research team confirmed that these regulatory differences are found, above all, in known DCM risk genes. But they also identified sixty new genes that are active in the heart and have not so far been linked to DCM.

Early detection of individuals at risk

According to Dr Matthias Heinig, lead author and group leader at the Helmholtz Zentrum München, “Our data are a valuable resource for cardiovascular research as a whole.” They make it easier to evaluate potential risk genes and offer researchers new indications for developing drugs and diagnostic tests.

“A test of this kind should identify people with an increased risk at an early stage,” says Heinig. “Then they can be treated in good time or change their lifestyle as a precautionary measure.”

“Although there are already plenty of clinical indications for many cardiovascular diseases,” Hübner, the physician, adds, “we hope a transcriptome analysis will be able to improve these predictions.”

In Hübner’s opinion the study is a major step forward for another reason, too: “We now understand DCM better. Our study has discovered adjusting screws for the development of the disease that go well beyond classic gene mutations.”

Matthias Heinig et al. (2017): „Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.“ Genome Biology. doi:10.1186/s13059-017-1286-z (Open Access)

Weitere Informationen:

https://www.mdc-berlin.de/1150679/ – Website of the group “Genetics and Genomics of Cardiovascular Diseases”

Annette Tuffs | Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft
Further information:
http://www.mdc-berlin.de/

More articles from Life Sciences:

nachricht Newly designed molecule binds nitrogen
23.02.2018 | Julius-Maximilians-Universität Würzburg

nachricht Atomic Design by Water
23.02.2018 | Max-Planck-Institut für Eisenforschung GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Attoseconds break into atomic interior

A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.

In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...

Im Focus: Good vibrations feel the force

A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.

By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...

Im Focus: Developing reliable quantum computers

International research team makes important step on the path to solving certification problems

Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...

Im Focus: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Basque researchers turn light upside down

23.02.2018 | Physics and Astronomy

Finnish research group discovers a new immune system regulator

23.02.2018 | Health and Medicine

Attoseconds break into atomic interior

23.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>